基因名:
Ccdc172
产品别名:
1700011F14Rik; Ccdc172; coiled-coil domain containing 172; coiled-coil domain containing 172; coiled-coil domain-containing protein 172; TEKT2-binding protein 2; UPF0628 protein C10orf96 homolog; 10号染色体开放阅读框96;
背景信息:
C10orf96 is a 258 amino acid protein belonging to the UPF0628 family and is encoded by a gene located on human chromosome 10. Spanning nearly 135 million base pairs, chromosome 10 makes up approximately 4.5% of total DNA in cells and encodes nearly 1,200 genes. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. 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.