TIMM44 Chromosome 19

Translocase of inner mitochondrial membrane 44
2 variants 2 Health Risk

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What This Gene Does
This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
TIM23 complex
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000104980
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS147925283 Health Risk Conflicting classifications of pathogenicity
RS149700042 Health Risk Conflicting classifications of pathogenicity
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