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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12976850	19:7,992,052	A/C	—	benign
rs758350311	19:7,992,077	G/A	—	uncertain significance
rs143337629	19:7,992,124	G/A	—	uncertain significance
rs11542188	19:7,992,126	G/A	—	benign
rs201541844	19:7,992,158	G/C	—	uncertain significance
rs138385134	19:7,992,159	C/T	—	likely benign
rs1178377258	19:7,992,179	G/A	—	uncertain significance
rs762492405	19:7,992,543	G/A	—	uncertain significance
rs1983853235	19:7,992,573	T/C	—	uncertain significance
rs138025511	19:7,992,619	C/T	—	uncertain significance
rs201450352	19:7,992,625	C/T	—	uncertain significance
rs1453014028	19:7,992,645	A/G	—	uncertain significance
rs34425383	19:7,992,959	T/C	—	benign
rs1013292791	19:7,992,967	C/T	—	likely benign
rs766510463	19:7,992,969	T/C	—	uncertain significance
rs11542187	19:7,992,976	C/T	—	benign
rs150088116	19:7,992,987	C/A	—	uncertain significance
rs941820256	19:7,996,043	T/C	—	uncertain significance
rs139333938	19:7,996,071	G/A	—	benign
rs759023832	19:7,997,558	C/T	—	uncertain significance
rs75137889	19:7,997,575	T/C	—	benign
rs139625465	19:7,997,576	G/T	missense variant	not provided
rs2512387821	19:7,997,592	T/A	—	uncertain significance
rs55991628	19:7,997,644	G/A	—	benign
rs2279528	19:7,997,676	G/A	—	benign
rs55850302	19:7,997,683	G/A	—	benign
rs200898652	19:7,997,734	C/G	—	uncertain significance
rs1285763152	19:7,997,736	G/A	—	uncertain significance
rs376804397	19:7,997,783	G/A	—	benign
rs1057522943	19:7,997,816	C/G	—	likely benign
rs118048213	19:7,998,386	G/C	—	benign
rs755332243	19:7,998,439	C/T	—	uncertain significance
rs2512388539	19:7,998,455	C/G	—	uncertain significance
rs35483559	19:7,998,733	A/T	—	benign
rs774365744	19:7,998,810	G/A	—	uncertain significance
rs759766686	19:7,998,815	C/T	—	uncertain significance
rs147925283	19:7,998,852	C/T	—	conflicting classifications of pathogenicity
rs754767665	19:7,998,858	C/T	—	uncertain significance
rs141712131	19:7,998,859	G/A	—	benign
rs185667226	19:7,998,897	G/A	—	benign
rs374101751	19:7,999,005	C/T	—	uncertain significance
rs147575759	19:7,999,023	T/C	—	uncertain significance
rs905832236	19:7,999,056	T/C	—	uncertain significance
rs368458102	19:7,999,072	C/T	—	uncertain significance
rs201616344	19:7,999,093	C/T	—	uncertain significance
rs143021819	19:7,999,094	G/A	—	benign
rs863224232	19:7,999,117	G/A	—	uncertain significance
rs55715900	19:7,999,121	G/A	—	benign
rs34837363	19:7,999,980	C/T	—	benign
rs11542189	19:8,000,001	C/T	—	benign
rs143916790	19:8,000,002	G/A	—	uncertain significance
rs375127775	19:8,000,043	C/T	—	benign
rs35989631	19:8,000,045	C/T	—	benign
rs3745387	19:8,000,104	G/A	—	benign
rs199514381	19:8,002,999	T/G	—	uncertain significance
rs117812409	19:8,003,021	C/T	—	benign
rs144317041	19:8,003,040	T/C	—	benign
rs145509783	19:8,005,990	T/C	—	benign
rs200079111	19:8,006,006	G/A	—	uncertain significance
rs147729581	19:8,006,026	C/T	—	benign
rs758538676	19:8,006,045	T/C	—	uncertain significance
rs35992331	19:8,006,059	T/C	—	benign
rs149700042	19:8,006,070	T/C	—	conflicting classifications of pathogenicity
rs192670629	19:8,006,090	G/T	—	uncertain significance
rs768509913	19:8,008,476	C/A	—	uncertain significance
rs12985279	19:8,008,484	C/T	—	benign
rs767662474	19:8,008,505	C/A	—	uncertain significance
rs764520473	19:8,008,515	T/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.