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Gene Symbol |
MTCH2 |
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Aliases |
HSPC032, MIMP, SLC25A50 |
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Entrez Gene ID |
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Gene Name |
Mitochondrial carrier 2 |
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Chromosomal Location |
11p11.2 |
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HGNC ID |
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Summary |
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. [provided by RefSeq, Dec 2017]
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e!Ensembl
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Protein Information |
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Protein Name |
Mitochondrial carrier homolog 2, 2310034D24Rik, met-induced mitochondrial protein, solute carrier family 25, member 50 |
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Function |
The substrate transported is not yet known. Induces mitochondrial depolarization |
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UniProt |
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Pfam |
Pfam Accession |
Pfam ID |
PF00153 |
Mito_carr |
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Associated Diseases
Disease group | Disease Name | References |
Endocrine System Diseases |
PCOS |
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Nutritional and Metabolic Diseases |
Obesity |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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PCOS, Obesity |
rs10838738 |
Rotterdam Criteria |
Indirect
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249 PCOS Patient and 299 Control |
NA |
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