GORAB
LOCUS ID92344
GENE_SYMBOLGORAB
GENE NAMEgolgin, RAB6-interacting
SYNONYMNSGO, NTKLBP1, SCYL1BP1
CHROMOSOME1
HOMOLOGENE ID45113
microRNAsNANA
GENE 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-termil kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Altertively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

OBSERVATIONS

Complication Evidence PMID
Retinopathy1. Sub-alysis in patients with diabetic retinopathy revealed that rs6427247 near SCYL1BP1 (also known as GORAB) and rs899036 near API5 were associated with severe diabetic retinopathy (OR 1.368,p = 0.0333 and OR 0.340, p = 0.0005, respectively).25819896