TIMM44

translocase of inner mitochondrial membrane 44

Summary

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]

Known Variants68 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1297685019:7,992,052A/C—benign
rs75835031119:7,992,077G/A—uncertain significance
rs14333762919:7,992,124G/A—uncertain significance
rs1154218819:7,992,126G/A—benign
rs20154184419:7,992,158G/C—uncertain significance
rs13838513419:7,992,159C/T—likely benign
rs117837725819:7,992,179G/A—uncertain significance
rs76249240519:7,992,543G/A—uncertain significance
rs198385323519:7,992,573T/C—uncertain significance
rs13802551119:7,992,619C/T—uncertain significance
rs20145035219:7,992,625C/T—uncertain significance
rs145301402819:7,992,645A/G—uncertain significance
rs3442538319:7,992,959T/C—benign
rs101329279119:7,992,967C/T—likely benign
rs76651046319:7,992,969T/C—uncertain significance
rs1154218719:7,992,976C/T—benign
rs15008811619:7,992,987C/A—uncertain significance
rs94182025619:7,996,043T/C—uncertain significance
rs13933393819:7,996,071G/A—benign
rs75902383219:7,997,558C/T—uncertain significance
rs7513788919:7,997,575T/C—benign
rs13962546519:7,997,576G/Tmissense variantnot provided
rs251238782119:7,997,592T/A—uncertain significance
rs5599162819:7,997,644G/A—benign
rs227952819:7,997,676G/A—benign
rs5585030219:7,997,683G/A—benign
rs20089865219:7,997,734C/G—uncertain significance
rs128576315219:7,997,736G/A—uncertain significance
rs37680439719:7,997,783G/A—benign
rs105752294319:7,997,816C/G—likely benign
rs11804821319:7,998,386G/C—benign
rs75533224319:7,998,439C/T—uncertain significance
rs251238853919:7,998,455C/G—uncertain significance
rs3548355919:7,998,733A/T—benign
rs77436574419:7,998,810G/A—uncertain significance
rs75976668619:7,998,815C/T—uncertain significance
rs14792528319:7,998,852C/T—conflicting classifications of pathogenicity
rs75476766519:7,998,858C/T—uncertain significance
rs14171213119:7,998,859G/A—benign
rs18566722619:7,998,897G/A—benign
rs37410175119:7,999,005C/T—uncertain significance
rs14757575919:7,999,023T/C—uncertain significance
rs90583223619:7,999,056T/C—uncertain significance
rs36845810219:7,999,072C/T—uncertain significance
rs20161634419:7,999,093C/T—uncertain significance
rs14302181919:7,999,094G/A—benign
rs86322423219:7,999,117G/A—uncertain significance
rs5571590019:7,999,121G/A—benign
rs3483736319:7,999,980C/T—benign
rs1154218919:8,000,001C/T—benign
rs14391679019:8,000,002G/A—uncertain significance
rs37512777519:8,000,043C/T—benign
rs3598963119:8,000,045C/T—benign
rs374538719:8,000,104G/A—benign
rs19951438119:8,002,999T/G—uncertain significance
rs11781240919:8,003,021C/T—benign
rs14431704119:8,003,040T/C—benign
rs14550978319:8,005,990T/C—benign
rs20007911119:8,006,006G/A—uncertain significance
rs14772958119:8,006,026C/T—benign
rs75853867619:8,006,045T/C—uncertain significance
rs3599233119:8,006,059T/C—benign
rs14970004219:8,006,070T/C—conflicting classifications of pathogenicity
rs19267062919:8,006,090G/T—uncertain significance
rs76850991319:8,008,476C/A—uncertain significance
rs1298527919:8,008,484C/T—benign
rs76766247419:8,008,505C/A—uncertain significance
rs76452047319:8,008,515T/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.