TIMM8A - translocase of inner mitochondrial membrane 8A Gene

Homo sapiens

Also known as DDP; MTS; DDP1; DFN1; TIM8

Gene ID: 1678 | Gene type: protein coding

About TIMM8A

Cytogenetic location: Xq22.1 Genomic coordinates (GRCh38): X:101,345,661-101,348,742 (from NCBI)

This gene has 4 transcripts (splice variants), 211 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 4.3), kidney (RPKM 2.9) and 25 other tissues.

Summary

This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]

TIMM8A Products(2)

mRNA	Protein	Name
NM_001145951.2	NP_001139423.1	mitochondrial import inner membrane translocase subunit Tim8 A isoform 2
NM_004085.4	NP_004076.1	mitochondrial import inner membrane translocase subunit Tim8 A isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	11956200	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11956200	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	14726512	GOA
part of mitochondrial intermembrane space protein transporter complex	IPI IPI: Inferred from physical interaction	11956200	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TIMM8A Protein Structure

zf-Tim10_DDP

0
97 a.a.

Protein Preferred Names

Protein Names

mitochondrial import inner membrane translocase subunit Tim8 A

X-linked deafness dystonia protein

TIMM8A Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	TIMM8A	O60220	STAM2	Homo sapiens	O75886	Y2H Array	25910212
Intra	TIMM8A	O60220	STAM2	Homo sapiens	O75886	Validated Y2H	25416956
Intra	TIMM8A	O60220	STAM2	Homo sapiens	O75886	Y2H Array	32296183
Intra	TIMM8A	O60220	STAM2	Homo sapiens	O75886	Y2H Bait-Prey Pool	25910212
Intra	TIMM8A	O60220	TIMM13	Homo sapiens	Q9Y5L4	Anti Tag CoIP	33961781
Intra	TIMM8A	O60220	STAM2	Homo sapiens	O75886	Y2H Prey Pooling	32296183
Intra	TIMM8A	O60220	STAM2	Homo sapiens	O75886	Validated Y2H	25910212
Intra	TIMM8A	O60220	TIMM13	Homo sapiens	Q9Y5L4	Pull Down	11956200
Intra	TIMM8A	O60220	STAM2	Homo sapiens	O75886	Validated Y2H	32296183
Intra	TIMM8A	O60220	GLE1	Homo sapiens	Q53GS7	Validated Y2H	32814053
Intra	TIMM8A	O60220	GLE1	Homo sapiens	Q53GS7	Y2H Pooling	32814053
Intra	TIMM8A	O60220	GLE1	Homo sapiens	Q53GS7	Y2H Array	32814053
Intra	TIMM8A	O60220	C1QTNF2	Homo sapiens	Q9BXJ5	Validated Y2H	32296183
Intra	TIMM8A	O60220	CCT5	Homo sapiens	P48643	Validated Y2H	32814053
Intra	TIMM8A	O60220	CCT5	Homo sapiens	P48643	Y2H Array	32814053
Intra	TIMM8A	O60220	CCT5	Homo sapiens	P48643	Y2H Pooling	32814053
Intra	TIMM8A	O60220	CAVIN3	Homo sapiens	Q969G5	Validated Y2H	32296183
Intra	TIMM8A	O60220	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	TIMM8A	O60220	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	TIMM8A	O60220	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	TIMM8A	O60220	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	TIMM8A	O60220	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	TIMM8A	O60220	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	TIMM8A	O60220	ARID3A	Homo sapiens	Q99856	Validated Y2H	32296183
Intra	TIMM8A	O60220	ARID3A	Homo sapiens	Q99856	Y2H Prey Pooling	32296183
Intra	TIMM8A	O60220	ARID3A	Homo sapiens	Q99856	Y2H Array	32296183
Intra	TIMM8A	O60220	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	TIMM8A	O60220	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	TIMM8A	O60220	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	TIMM8A	O60220	KRT15	Homo sapiens	P19012	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Mohr-Tranebjaerg Syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome	Jensen Syndrome
Deafness Dystonia Syndrome	MTS
Dds	Deafness-Dystonia-Optic Atrophy Syndrome
Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency	Opticoacoustic Nerve Atrophy With Dementia
Dystonia-Deafness Syndrome	Ddp
Ddon Syndrome	Mohr-Tranebjærg Syndrome
Deafness Dystonia Optic Atrophy Syndrome	Deafness Dystonia Optic Neuronopathy Syndrome
Dystonia Deafness Syndrome	Ddon
Deafness - Dystonia - Optic Neuronopathy Syndrome	Deafness-Dystonia-Optic Neuronopathy Syndrome
Hearing Loss-Dystonia-Optic Neuronopathy Syndrome	Dfn-1
X-Linked Progressive Deafness Type 1

Focal Dystonia

Dystonia, Focal, Task-Specific

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Cortical Blindness

Blindness, Cortical

Blepharospasm

Isthmus Cancer

Aniseikonia

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

Deafness, X-Linked 1

DFNX1	Dfn2
Deafness, X-Linked 2, Sensorineural Congenital	X-Linked Deafness 1
X-Linked Sensorineural Congenital Deafness 2	Deafness, X-Linked, 1
Congenital Sensorineural Deafness X-Linked 2	Deafness, X-Linked, Type 1

Agammaglobulinemia

Hypogammaglobulinemia	Ighm
Mu Heavy Chain Deficiency	Mu-Heavy Chain Disease
Mu-Hcd	Mu-Chain Disease

Deafness, X-Linked 7

X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome	DFNX7
X-Linked Deafness 7	Deafness, X-Linked, 7

X-Linked Nonsyndromic Deafness

X-Linked Deafness

Deafness, X-Linked

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Deafness, X-Linked 4

DFNX4	Dfn6
Deafness, Nonsyndromic Sensorineural Progressive 6	X-Linked Deafness 4
Deafness, X-Linked 6, Progressive	Nonsyndromic Sensorineural Progressive Deafness 6
X-Linked Progressive Deafness 6	Deafness, X-Linked, 4
Deafness Nonsyndromic Sensorineural Progressive 6	Deafness X-Linked 6 Progressive
Deafness, X-Linked, Type 4

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

Visual Cortex Disease

Visual Cortex Dysfunction	Visual Cortex Disorder
Visual Cortical Disorder	Disease Of Visual Cortex

3-Methylglutaconic Aciduria, Type V

3-Methylglutaconic Aciduria Type 5	Mga5
MGCA5	Dcma
Dcma Syndrome	Dilated Cardiomyopathy With Ataxia
3-Methylglutaconic Aciduria Type V	Mga Type V
Cardiomyopathy, Dilated, With Ataxia	Mga, Type V
Dilated Cardiomyopathy With Ataxia Syndrome	Dnajc19 Defect
3-Methylglutaconic Aciduria 5	3-Alpha-Methylglutaconic Aciduria Type 5
3-@Methylglutaconic Aciduria, Type V

Deafness, X-Linked 2

Progressive Deafness With Stapes Fixation	DFNX2
Dfn3	Nance Deafness
Perilymphatic Gusher-Deafness Syndrome	Stapedo-Vestibular Ankylosis
Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear	X-Linked Deafness 2
X-Linked Mixed Conductive And Neurosensory Deafness	X-Linked Mixed Conductive And Sensorineural Deafness
Deafness 3 Conductive With Stapes Fixation	Deafness Conductive With Stapes Fixation
Deafness Mixed With Perilymphatic Gusher	Thies-Reis Syndrome
Deafness, Conductive, With Stapes Fixation	Deafness 3, Conductive, With Stapes Fixation
Deafness, Mixed, With Perilymphatic Gusher	Conductive Deafness 3 With Stapes Fixation
Conductive Deafness With Stapes Fixation	Mixed Deafness With Perilymphatic Gusher
X-Linked Deafness Type 2	X-Linked Mixed Conductive And Neurosensory Hearing Loss
X-Linked Mixed Conductive And Sensorineural Hearing Loss	X-Linked Sensorineural Deafness
X-Linked Stapes Gusher Syndrome	Deafness Mixed With Perilymphatic Gusher, X-Linked
Dfn 3 Nonsyndromic Hearing Loss And Deafness	Gusher Syndrome
Thies Reis Syndrome	Progressive Hearing Loss With Stapes Fixation
Deafness, X-Linked, 2	Deafness Mixed With Perilymph Gusher X-Linked
Deafness, X-Linked, Type 2	Progressive Hearing Loss Stapes Fixation

Visual Pathway Disease

Disorder Of Visual Pathways

Cornelia De Lange Syndrome 1

De Lange Syndrome	CDLS1
Cdl	Cdls
Typus Degenerativus Amstelodamensis	Brachmann-De Lange Syndrome
Bdls	Amstelodamensis Typus Degenerativus
Cornelia De Lange Syndrome, Type 1

3-Methylglutaconic Aciduria

3-Methyl Glutaconic Aciduria

Sengers Syndrome

Mitochondrial Dna Depletion Syndrome 10	Cardiomyopathy And Cataract
Cataract And Cardiomyopathy	MTDPS10
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10
Senger Syndrome

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Woodhouse-Sakati Syndrome

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome	Woodhouse Sakati Syndrome
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome	WDSKS
Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia	Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome
Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia	Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome
Neuroectodermal Endocrine Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities
Wss

Amme Complex

Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis	ATS-MR
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Chromosome Xq22.3 Telomeric Deletion Syndrome
Amme Syndrome	Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis

Charcot-Marie-Tooth Disease X-Linked Recessive 4

Cmt4x	Cmtx4
Cowchock Syndrome	X-Linked Charcot-Marie-Tooth Disease Type 4
Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation	Charcot-Marie-Tooth Disease With Deafness And Mental Retardation
Nadmr	Namsd

Movement Disease

Movement Disorders

Movement Disorder

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy	Leber Hereditary Optic Neuropathy
LHON	Leber'S Hereditary Optic Neuropathy
Leber Optic Atrophy, Susceptibility To	Leber'S Optic Atrophy
LOAM	Loas
Leber'S Disease	Leber'S Optic Neuropathy
Optic Atrophy, Hereditary, Leber	Lhon, Modifier Of
Optic Atrophy, Leber Type	Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy	Loa
Optic Atrophy Leber Type	Leber Hereditary Optic Neuropathy, Modifier
Leber Hereditary Optic Neuropathy Susceptibility	Modifier Of Leber Hereditary Optic Neuropathy
Lebers Hereditary Optic Neuropathy	Leber Congenital Amaurosis

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14534	TIMM8A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TIMM8A	VGNC	VGNC:49623
Rattus norvegicus	TIMM8A	RGD	RGD:621801
Bos taurus	TIMM8A	VGNC	VGNC:49578
Mus musculus	TIMM8A	MGD	MGI:1353433

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