基因名:
Efhd2
产品别名:
2600015J22Rik; AA408606; D4Wsu27e; Efhd2; EF hand domain containing 2; EF hand domain containing 2; EF-hand domain-containing protein D2; swiprosin-1; EFHD2蛋白;
背景信息:
EFHD2 is a 240 amino acid protein that regulates spontaneous apoptosis through the regulation of Bcl-xS abundance. Localized to membrane raft, Swiprosin-1 is expressed in lymphocytes and contains two EF-hand domains. The gene encoding Swiprosin-1 maps to human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. Chromosome 1 houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome. Aberrations in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma.