Gerodermia Osteodysplastica (GO)

GORAB encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. The deduced human and mouse proteins contain 394 and 368 amino acids, respectively, and they share 70% identity. NTKLBP1 has a bipartite nuclear localization signal, a BRCA1 C-terminal (BRCT) domain, 2 coiled-coil domains, and several putative phosphorylation sites. The BRCT domain is found in DNA damage repair and cell cycle checkpoint proteins.