1. Gene
  2. SLC25A26 - solute carrier family 25 member 26 Gene

SLC25A26 - solute carrier family 25 member 26 Gene

Homo sapiens

Also known as SAMC; COXPD28

Gene ID: 115286 | Gene type: protein coding

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

SLC25A26 Protein Structure

Mito_carr

Mito_carr: Mitochondrial carrier protein (4 - 79)

Mito_carr

Mito_carr: Mitochondrial carrier protein (87 - 169)

Mito_carr

Mito_carr: Mitochondrial carrier protein (179 - 266)

  • 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

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