Mitochondrial Carrier Homolog 2

Alternative Names

  • MTCH2
  • Met-Induced Mitochondrial Protein
  • MIMP
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OMIM Number

613221

NCBI Gene ID

23788

Uniprot ID

Q9Y6C9

Length

38,289 bases

No. of Exons

14

No. of isoforms

1

Protein Name

Mitochondrial carrier homolog 2

Molecular Mass

33331 Da

Amino Acid Count

303

Genomic Location

chr11:47,604,308-47,642,596

Gene Map Locus
11p11.2

Description

This gene encodes a member of the SLC25 family of nuclear-encoded transporters that are localized in the inner mitochondrial membrane. Members of this superfamily are involved in many metabolic pathways and cell functions. Genome-wide association studies in human have identified single-nucleotide polymorphisms in several loci associated with obesity. This gene is one such locus, which is highly expressed in white adipose tissue and adipocytes, and thought to play a regulatory role in adipocyte differentiation and biology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target that can produce two isoforms from the same mRNA by use of alternative in-frame translation termination codons. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001317231.1:c.540-395G>AUnited Arab EmiratesNC_000011.10:g.47629441C>TObesityNM_001317231.1:c.540-395G>A; NP_001304160.1:p.?3817334
NM_001317231.1:c.87+882T>CUnited Arab EmiratesNC_000011.10:g.47641497A>GObesityNM_001317231.1:c.87+882T>C; NP_001304160.1:p.?10838738
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