基因名:
CFAP46
产品别名:
C10orf123; C10orf124; C10orf92; C10orf93; TTC40; bA288G11.4; bA288G11.5; bB137A17.2; bB137A17.3; CFAP46; cilia and flagella associated protein 46; cilia and flagella associated protein 46; cilia- and flagella-associated protein 46; TPR repeat-containing protein C10orf93; tetratricopeptide repeat domain 40; tetratricopeptide repeat protein 40; 10号染色体开放阅读框93;
背景信息:
C10orf93 , also known as C10orf124 or TPR repeat-containing protein C10orf93, is a 1,530 amino acid protein that contains two TPR repeats and exists as three alternatively spliced isoforms. The gene encoding C10orf93 maps to human chromosome 10q26.3. 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.