TMEM126B - transmembrane protein 126B Gene

Homo sapiens

Also known as HT007; MC1DN29

Gene ID: 55863 | Gene type: protein coding

About TMEM126B

Cytogenetic location: 11q14.1 Genomic coordinates (GRCh38): 11:85,628,573-85,636,540 (from NCBI)

This gene has 11 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 18.2), fat (RPKM 17.4) and 25 other tissues.

Summary

This gene encodes a mitochondrial transmembrane protein which is a component of the mitochondrial complex I assembly complex. The encoded protein serves as an assembly factor that is required for formation of the membrane arm of the complex. It interacts with NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 13. Naturally occurring mutations in this gene are associated with isolated complex I deficiency. A pseudogene of this gene has been defined on chromosome 9. [provided by RefSeq, Apr 2017]

TMEM126B Products(9)

mRNA	Protein	Name
NM_001193537.3	NP_001180466.1	complex I assembly factor TMEM126B, mitochondrial isoform b
NM_001193538.3	NP_001180467.1	complex I assembly factor TMEM126B, mitochondrial isoform c
NM_001256546.2	NP_001243475.1	complex I assembly factor TMEM126B, mitochondrial isoform c
NM_001256547.2	NP_001243476.1	complex I assembly factor TMEM126B, mitochondrial isoform d
NM_001350393.1	NP_001337322.1	complex I assembly factor TMEM126B, mitochondrial isoform e
NM_001350394.2	NP_001337323.1	complex I assembly factor TMEM126B, mitochondrial isoform f
NM_001350395.2	NP_001337324.1	complex I assembly factor TMEM126B, mitochondrial isoform g
NM_001350396.2	NP_001337325.1	complex I assembly factor TMEM126B, mitochondrial isoform h
NM_018480.7	NP_060950.3	complex I assembly factor TMEM126B, mitochondrial isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	27374773	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

TMEM126B Protein Structure

TMEM126

0
100
200
230 a.a.

Protein Preferred Names

Protein Names

complex I assembly factor TMEM126B, mitochondrial

TMEM126B Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	TMEM126B	Q8IUX1	MRFAP1L1	Homo sapiens	Q96HT8	Y2H Prey Pooling	25416956
Intra	TMEM126B	Q8IUX1	MRFAP1L1	Homo sapiens	Q96HT8	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Mitochondrial Complex I Deficiency, Nuclear Type 29

MC1DN29	Mitochondrial Complex 1 Deficiency, Nuclear Type 29
Nuclear Type Mitochondrial Complex I Deficiency 29

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency	Nadh:Q(1) Oxidoreductase Deficiency
MC1DN1	Nadh-Coenzyme Q Reductase Deficiency
Isolated Mitochondrial Respiratory Chain Complex I Deficiency	Isolated Nadh-Coenzyme Q Reductase Deficiency
Isolated Nadh-Coq Reductase Deficiency	Isolated Nadh-Ubiquinone Reductase Deficiency
Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of	Nuclear Type Mitochondrial Complex I Deficiency 1
Isolated Complex I Deficiency	Complex 1 Mitochondrial Respiratory Chain Deficiency
Nadh Coenzyme Q Reductase Deficiency	Complex I Mitochondrial Respiratory Chain Deficiency
Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I	Nadh:Ubiquinone Oxidoreductase Deficiency
Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

Optic Atrophy 7 With Or Without Auditory Neuropathy

Optic Atrophy 7	OPA7
Autosomal Recessive Optic Atrophy, Opa7 Type	Optic Atrophy-7
Atrophy, Optic, Type 7, With/Without Auditory Neuropathy

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Schizophrenia 2

SCZD2	Schizophrenia Susceptibility Locus, Chromosome 11q-Related
Schizophrenia Susceptibility Locus Chromosome 11q-Related

Leukodystrophy

Leukodystrophies

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

Myopathy

Muscular Diseases

Myopathies

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome	MELAS
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes	Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

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-RS14659	TMEM126B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TMEM126B	VGNC	VGNC:35959
Macaca mulatta	TMEM126B	VGNC	VGNC:79893
Mus musculus	TMEM126B	MGD	MGI:1915722
Rattus norvegicus	TMEM126B	RGD	RGD:1308371
Canis familiaris	TMEM126B	VGNC	VGNC:47460
Felis catus	TMEM126B	VGNC	VGNC:104337

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