Gene Symbol | GORAB |
Entrez Gene ID | 92344 |
Full Name | golgin, RAB6 interacting |
Synonyms | GO,NTKLBP1,SCYL1BP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene 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. [provided by RefSeq, Mar 2009]. |
Disorder MIM: | |
Disorder Html: | Geroderma osteodysplasticum, 231070 (3) |