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SLC25A26 - solute carrier family 25 member 26 Gene

Also Known as SAMC; COXPD28

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 115286

About SLC25A26

Cytogenetic location: 3p14.1 Genomic coordinates (GRCh38): 3:66,133,610-66,378,927 (from NCBI)

This gene has 22 transcripts (splice variants), 1 gene allele, 204 orthologues, 49 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 11.7), fat (RPKM 7.0) and 25 other tissues.

Summary

This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined Oxidative Phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]

SLC25A26 Products (9)

mRNA	Protein	Name
NM_001164796.1	NP_001158268.1	S-adenosylmethionine mitochondrial carrier protein isoform b
NM_001350993.1	NP_001337922.1	S-adenosylmethionine mitochondrial carrier protein isoform b
NM_001379210.1	NP_001366139.1	S-adenosylmethionine mitochondrial carrier protein isoform a
NM_001400705.1	NP_001387634.1	S-adenosylmethionine mitochondrial carrier protein isoform c
NM_001400707.1	NP_001387636.1	S-adenosylmethionine mitochondrial carrier protein isoform d
NM_001400709.1	NP_001387638.1	S-adenosylmethionine mitochondrial carrier protein isoform e
NM_001400711.1	NP_001387640.1	S-adenosylmethionine mitochondrial carrier protein isoform b
NM_001400714.1	NP_001387643.1	S-adenosylmethionine mitochondrial carrier protein isoform f
NM_173471.4	NP_775742.4	S-adenosylmethionine mitochondrial carrier protein isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables S-adenosyl-L-methionine transmembrane transporter activity	EXP EXP: Inferred from Experiment	14674884	GOA
enables S-adenosyl-L-methionine transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	14674884	GOA
enables S-adenosyl-L-methionine:S-adenosyl-L-homocysteine antiporter activity	IMP IMP: Inferred from mutant phenotype	26522469	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in S-adenosyl-L-methionine transport	IMP IMP: Inferred from mutant phenotype	14674884	GOA
acts upstream of macromolecule methylation	IMP IMP: Inferred from mutant phenotype	26522469	GOA
involved in mitochondrial S-adenosyl-L-methionine transmembrane transport	IMP IMP: Inferred from mutant phenotype	26522469	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	14674884	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

SLC25A26 Protein Structure

Mito_carr

0
100
200
274 a.a.

Protein Preferred Names	Protein Names
S-adenosylmethionine mitochondrial carrier protein	mitochondrial S-adenosylmethionine transporter

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 28	COXPD28 Neonatal Severe Cardiopulmonary Failure Due To Mitochondrial Methylation Defect Combined Oxidative Phosphorylation Defect Type 28
Combined Oxidative Phosphorylation Deficiency
Neuropathy, Hereditary Sensory, Type Ie	HSN1E Hsn Ie Hereditary Sensory Neuropathy Type 1e Hereditary Sensory Neuropathy Type Ie Hsan 1 Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia Hereditary Sensory Neuropathy Type 1 Hsn1 Hereditary Sensory And Autonomic Neuropathy Type 1 Neuropathy Hereditary Sensory And Autonomic Type 1 Neuropathy Hereditary Sensory Radicular, Autosomal Dominant Neuropathy, Hereditary Sensory, 1e Neuropathy Hereditary Sensory With Hearing Loss And Dementia Neuropathy, Hereditary Sensory, Type I Neuropathy, Sensory, Hereditary, Type Ie Hereditary Sensory And Autonomic Neuropathy Type Ie Hereditary Sensory Autonomic Neuropathy, Type 1
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Autosomal Dominant Cerebellar Ataxia, Deafness And Narcolepsy ADCADN Autosomal Dominant Cerebellar Ataxia, Deafness, And Narcolepsy Adca-Dn Syndrome Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome Adca-Dn Autosomal Dominant Cerebellar Ataxia-Hearing Loss-Narcolepsy Syndrome Ataxia, Cerebellar, Deafness, And Narcolepsy, Autosomal Dominant
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	PEOA2 Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 2 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2 Chronic Progressive External Ophthalmoplegia Progressive External Ophthalmoplegia, Autosomal Dominant 2 Autosomal Dominant Progressive External Ophthalmoplegia 2 Cpeo Graefe Disease Mitochondrial Ocular Myopathy Ocular Myopathy Of Von Graefe-Fuchs Progressive External Ophthalmoplegia Autosomal Dominant 2 Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 2 Kearns-Sayre Syndrome
Combined Oxidative Phosphorylation Deficiency 7	COXPD7 Combined Oxidative Phosphorylation Defect Type 7 Severe C12orf65-Related Combined Oxidative Phosphorylation Defect Severe C12orf65-Related Coxpd Combined Oxidative Phosphorylation Deficiency, Type 7
Codas Syndrome	Cerebral, Ocular, Dental, Auricular, And Skeletal Anomalies Syndrome Cerebral, Ocular, Dental, Auricular, And Skeletal Syndrome Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome Cerebrooculodentoauriculoskeletal Syndrome CODASS Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome
Hypotrichosis 2	HYPT2 Hypotrichosis Simplex Of The Scalp 1 Htss1 Htss Hypotrichosis, Spanish Type Spanish Type Hypotrichosis Hypotrichosis Spanish Type Hypotrichosis, Type 2 Hypotrichosis Simplex Of Scalp

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13107	SLC25A26 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SLC25A26	MGD	MGI:1914832
Rattus norvegicus	SLC25A26	RGD	RGD:1308811
Felis catus	SLC25A26	VGNC	VGNC:80717
Canis familiaris	SLC25A26	VGNC	VGNC:46302
Bos taurus	SLC25A26	VGNC	VGNC:34752
Macaca mulatta	SLC25A26	VGNC	VGNC:77530