GORAB gene

golgin, RAB6 interacting

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Geroderma osteodysplastica

From UniProt:

Geroderma osteodysplasticum (GO): A rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation. [MIM:231070]

Cytogenetic Location: 1q24.2, which is the long (q) arm of chromosome 1 at position 24.2

Molecular Location: base pairs 170,532,122 to 170,553,834 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q24.2, which is the long (q) arm of chromosome 1 at position 24.2
  • GO
  • NTKLBP1
  • SCYL1BP1