Application:IF
Reactivity: Human,Mouse (predicted: Rat,Pig,Cow,Dog,Horse)
The coiled-coil domain is a structural motif found in proteins that are involved in a diverse array of biological functions such as the regulation of gene expression, cell division, membrane fusion and drug extrusion and delivery. Some proteins that contain coil-coiled domains include c-jun, c-fos and tropomyosin. Coiled-coil domains consist of two or more ?helices packed together via interlacing side chains. CCDC7 (Coiled-coil domain-containing protein 7) is a 486 amino acid protein that contains a coiled-coil domain and is encoded by a gene that maps to human chromosome 10, which houses over 1,200 genes and comprises nearly 4.5% of the human genome. Defects in some genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman抯 syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria. There are two isoforms of CCDC7 that are produced as a result of alternative splicing events.