rs2525929702
This variant is located in the GORAB gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationAbout GORAB
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]
View all GORAB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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