基因名:
LHPP
产品别名:
HDHD2B; LHPP; phospholysine phosphohistidine inorganic pyrophosphate phosphatase; phospholysine phosphohistidine inorganic pyrophosphate phosphatase; phospholysine phosphohistidine inorganic pyrophosphate phosphatase; hLHPP; HDHD2B蛋白;
背景信息:
LHPP, also known as HDHD2B, is a 270 amino acid protein that exists as a homodimer and is a member of the HAD-like hydrolase superfamily. Expressed in liver, kidney and moderately in brain, LHPP is encoded by a gene located on 10, which houses over 1,200 genes and comprises nearly 4.5% of the human genome. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.