SLC25A46 - solute carrier family 25 member 46 Gene

Homo sapiens

Also known as PCH1E; HMSN6B

Gene ID: 91137 | Gene type: protein coding

About SLC25A46

Cytogenetic location: 5q22.1 Genomic coordinates (GRCh38): 5:110,738,145-110,765,157 (from NCBI)

This gene has 8 transcripts (splice variants), 218 orthologues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 17.7), thyroid (RPKM 13.2) and 25 other tissues.

Summary

This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]

SLC25A46 Products(3)

mRNA	Protein	Name
NM_001303249.3	NP_001290178.1	mitochondrial outer membrane protein SLC25A46 isoform 2
NM_001303250.3	NP_001290179.1	mitochondrial outer membrane protein SLC25A46 isoform 3
NM_138773.4	NP_620128.1	mitochondrial outer membrane protein SLC25A46 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	27390132	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cristae formation	IMP IMP: Inferred from mutant phenotype	27390132	GOA
involved in mitochondrial fission	IDA IDA: Inferred from direct assay	26168012	GOA
acts upstream of or within mitochondrial fission	IMP IMP: Inferred from mutant phenotype	27390132	GOA
involved in mitochondrial fission	IMP IMP: Inferred from mutant phenotype	27543974	GOA
involved in phospholipid homeostasis	IMP IMP: Inferred from mutant phenotype	27390132	GOA
involved in protein-containing complex assembly	IMP IMP: Inferred from mutant phenotype	27390132	GOA
acts upstream of or within respiratory chain complex IV assembly	IMP IMP: Inferred from mutant phenotype	27390132	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	26168012	GOA
located in mitochondrial outer membrane	IMP IMP: Inferred from mutant phenotype	27390132	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

SLC25A46 Protein Structure

Mito_carr

0
100
200
300
418 a.a.

Protein Preferred Names

Protein Names

mitochondrial outer membrane protein SLC25A46

SLC25A46 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SLC25A46	Q96AG3	HSD17B11	Homo sapiens	Q8NBQ5	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	HSD17B11	Homo sapiens	Q8NBQ5	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	VMA21	Homo sapiens	Q3ZAQ7	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	VMA21	Homo sapiens	Q3ZAQ7	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	REEP2	Homo sapiens	Q9BRK0	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	REEP2	Homo sapiens	Q9BRK0	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	REEP2	Homo sapiens	Q9BRK0	Validated Y2H	32296183
Intra	SLC25A46	Q96AG3	ODF4	Homo sapiens	Q2M2E3	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	ODF4	Homo sapiens	Q2M2E3	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	SLC7A8	Homo sapiens	Q9UHI5	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	SLC7A8	Homo sapiens	Q9UHI5	Validated Y2H	32296183
Intra	SLC25A46	Q96AG3	SLC7A8	Homo sapiens	Q9UHI5	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	HSD17B13	Homo sapiens	Q7Z5P4	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	HSD17B13	Homo sapiens	Q7Z5P4	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	SLC10A6	Homo sapiens	Q3KNW5	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	SLC10A6	Homo sapiens	Q3KNW5	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	MFSD14B	Homo sapiens	Q5SR56	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	MFSD14B	Homo sapiens	Q5SR56	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	SLC66A2	Homo sapiens	Q8N2U9	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	SLC66A2	Homo sapiens	Q8N2U9	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	SLC10A1	Homo sapiens	Q14973	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	SLC10A1	Homo sapiens	Q14973	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	FHL3	Homo sapiens	Q13643	Y2H Array	25416956
Intra	SLC25A46	Q96AG3	FHL3	Homo sapiens	Q13643	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	FHL3	Homo sapiens	Q13643	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	FHL3	Homo sapiens	Q13643	Y2H Prey Pooling	25416956
Intra	SLC25A46	Q96AG3	FHL3	Homo sapiens	Q13643	Validated Y2H	25416956
Intra	SLC25A46	Q96AG3	LEPROTL1	Homo sapiens	O95214	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	LEPROTL1	Homo sapiens	O95214	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	REEP4	Homo sapiens	Q9H6H4	Validated Y2H	32296183
Intra	SLC25A46	Q96AG3	REEP4	Homo sapiens	Q9H6H4	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	REEP4	Homo sapiens	Q9H6H4	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Pontocerebellar Hypoplasia, Type 1e

Pontocerebellar Hypoplasia Type 1	PCH1E
Norman Disease	Pch1
Pontocerebellar Hypoplasia With Anterior Horn Cell Disease	Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
Pontocerebellar Hypoplasia Type 1e	Pontocerebellar Hypoplasia 1e
Doid:0112322	Doid:0112330

Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy

Neuropathy, Hereditary Motor And Sensory, Type Vib	HMSN6B
Hmsn Vib	Cmt6b
Neuropathy, Hereditary Motor And Sensory, Type 6b	Charcot-Marie-Tooth Disease, Type 6b
Neuropathy, Hereditary Motor And Sensory, 6b, With Optic Atrophy	Charcot-Marie-Tooth Disease 6b
Hereditary Motor And Sensory Neuropathy Type Vib	Neuropathy, Motor And Sensory, Hereditary, Type Vib

Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy

Peripheral Neuropathy And Optic Atrophy	Cmt6
Charcot-Marie-Tooth Disease Type 6	Hmsn Vi
HMSN6A	Hmsn Via
Hmsn6	Cmt6a
Charcot-Marie-Tooth Disease, Type 6	Hereditary Motor And Sensory Neuropathy Type 6
Hereditary Motor And Sensory Neuropathy Type Vi	Neuropathy, Hereditary Motor And Sensory, Type 6a
Neuropathy, Hereditary Motor And Sensory, Type Vi	Charcot-Marie-Tooth Disease, Type 6a
Hereditary Motor And Sensory Neuropathy Via	Hmsn 6
Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy	Charcot-Marie-Tooth Disease 6
Charcot-Marie-Tooth Disease 6a	Hereditary Motor And Sensory Neuropathy Type Via
Hereditary Motor And Sensory Neuropathy Vi

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Spastic Ataxia

Spax	Ataxia, Spastic

Optic Atrophy 3, Autosomal Dominant

Optic Atrophy 3	OPA3
Autosomal Dominant Optic Atrophy And Cataract	Optic Atrophy And Cataract, Autosomal Dominant
Autosomal Dominant Optic Atrophy Type 3	Optic Atrophy 3 With Cataract
Opa3, Autosomal Dominant	Adoac
Optic Atrophy, Cataract, And Neurologic Disorder	Autosomal Dominant Optic Atrophy 3
Optic Atrophy Type 3	Optic Atrophy 3 Autosomal Dominant
Atrophy, Optic, Type 3, Autosomal Dominant	3-Methylglutaconic Aciduria Type 3

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

Pontocerebellar Hypoplasia, Type 1d

PCH1D	Pontocerebellar Hypoplasia Type 1d
Pontocerebellar Hypoplasia 1d	Doid:0112323
Hypoplasia, Pontocerebellar, Type 1d

Transitional Papilloma

Transitional Cell Papilloma

Transitional Cell Papilloma, Benign

Behr Syndrome

BEHRS	Abortive Cerebellar Ataxia
Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities	Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of
Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss	Obsolete: Behr Syndrome
Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss	Infantile Hereditary Optic Atrophy With Neurologic Abnormalities

Optic Nerve Disease

Optic Neuropathy	Disorder Of The Second Nerve
Optic Nerve Disorder	Optic Nerve
Abnormality Of The Optic Nerve	Optic Nerve Disorders
Neuropathy, Optic	Disorder Of The Optic Nerve

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

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-RS13128	SLC25A46 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SLC25A46	MGD	MGI:1914703
Macaca mulatta	SLC25A46	VGNC	VGNC:77569
Felis catus	SLC25A46	VGNC	VGNC:102321
Rattus norvegicus	SLC25A46	RGD	RGD:1305072
Bos taurus	SLC25A46	VGNC	VGNC:34771
Canis familiaris	SLC25A46	VGNC	VGNC:46316
Others	SLC25A46	NCBI

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