rs201557228
This variant is located in the CHCHD3 gene.
▶ClinVar annotation
About CHCHD3
The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
View all CHCHD3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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