| GORAB |
| LOCUS ID | 92344 | ||||||||||
| GENE_SYMBOL | GORAB | ||||||||||
| GENE NAME | golgin, RAB6-interac | ||||||||||
| SYNONYMNS | GO, NTKLBP1, SCYL1BP1 | ||||||||||
| CHROMOSOME | 1 | ||||||||||
| HOMOLOGENE ID | 45113 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| 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 |
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| Complication | Evidence | PMID |
| Retinopathy | 1. 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 |