Entrez 92344 | Ensembl ENSG00000120370 | |
Aliases GORAB, GO, NTKLBP1, SCYL1BP1, golgin, RAB6 interacting External IDs MGI: 2138271 HomoloGene: 45113 GeneCards: GORAB | ||
RAB6-interacting golgin also known as N-terminal kinase-like-binding protein 1 (NTKL-BP1) or SCY1-like 1-binding protein 1 (SCYL1-BP1) is a protein that in humans is encoded by the GORAB gene.
Contents
Function
This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi apparatus. 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.
Clinical significance
Mutations in this gene have been associated with geroderma osteodysplastica.
References
GORAB Wikipedia(Text) CC BY-SA