LETM1
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1352340
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资源简介：
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]
本基因编码的蛋白质定位于线粒体内膜。该蛋白质的功能在于维持线粒体的管状形态，对于正常的线粒体形态和细胞存活至关重要。该基因的突变可导致沃尔夫-希茨霍恩综合征，这是一种由第4号染色体远端短臂部分缺失引起的复杂畸形综合征。在染色体8、15和19上已识别出相关的假基因。[由RefSeq提供，2009年10月]
提供机构：
Rat Genome Database
