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  2. MTCH1 - mitochondrial carrier 1 Gene

MTCH1 - mitochondrial carrier 1 Gene

Homo sapiens

Also known as PSAP; PIG60; CGI-64; SLC25A49

Gene ID: 23787 | Gene type: protein coding

About MTCH1

Cytogenetic location: 6p21.2 Genomic coordinates (GRCh38): 6:36,968,135-36,986,551 (from NCBI)

This gene has 42 transcripts (splice variants), 187 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 127.6), brain (RPKM 84.7) and 25 other tissues.

Summary

This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces Apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012]

MTCH1 Products(4)

mRNA Protein Name
NM_001271641.2 NP_001258570.1 mitochondrial carrier homolog 1 isoform PSAP-LL
NM_001410897.1 NP_001397826.1 mitochondrial carrier homolog 1 isoform 3
NM_001410899.1 NP_001397828.1 mitochondrial carrier homolog 1 isoform 4
NM_014341.2 NP_055156.1 mitochondrial carrier homolog 1 isoform PSAP-LS

MTCH1 Protein Structure

Mito_carr

Mito_carr: Mitochondrial carrier protein (206 - 265)

  • 0
  • 100
  • 200
  • 300
  • 389 a.a.
Protein Preferred Names Protein Names

mitochondrial carrier homolog 1

cell proliferation-inducing protein 60

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 39

Hypomyelination, Global Cerebral

Agc1 Deficiency

Epileptic Encephalopathy, Early Infantile, 39

DEE39

Eiee39

Aspartate-Glutamate Carrier 1 Deficiency

Epileptic Encephalopathy With Global Cerebral Demyelination

Developmental And Epileptic Encephalopathy, 39

Early Infantile Epileptic Encephalopathy 39

Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency

Global Cerebral Hypomyelination

Hereditary Central Nervous System Demyelinating Diseases

Hemoglobin E Disease

Hemoglobin E

Hb-E Disease

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
Bos taurus MTCH1 VGNC VGNC:55920
Rattus norvegicus MTCH1 RGD RGD:1309262
Mus musculus MTCH1 MGD MGI:1929261
Macaca mulatta MTCH1 VGNC VGNC:74788
Canis familiaris MTCH1 VGNC VGNC:43459
Felis catus MTCH1 VGNC VGNC:63641