靶标:
LETM1
产品别名:
SLC55A1; LETM1; leucine zipper and EF-hand containing transmembrane protein 1; leucine zipper and EF-hand containing transmembrane protein 1; mitochondrial proton/calcium exchanger protein; LETM1 and EF-hand domain-containing protein 1, mitochondrial; Mdm38 homolog; leucine zipper-EF-hand containing transmembrane protein 1; LETM1蛋白;
背景信息:
This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009],