Golgin, RAB6-Interacting

Alternative Names

  • GORAB
  • SCYL1-Binding Protein 1
  • SCYL1BP1
  • NTKL-Binding Protein 1
  • NTKLBP1

Associated Diseases

Geroderma Osteodysplasticum
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OMIM Number

607983

NCBI Gene ID

92344

Uniprot ID

Q5T7V8

Length

21,706 bases

No. of Exons

7

No. of isoforms

4

Protein Name

RAB6-Interacting Golgin

Molecular Mass

44993 Da

Amino Acid Count

394

Genomic Location

chr1:170,532,133-170,553,833

Gene Map Locus
1q24.2

Description

The GORAB gene provides instructions for making a member of the golgin family that localizes to the Golgi complex and the cytoplasm.  The golgin family consists of a group of coiled-coil proteins that play different roles in Golgi-related transport processes.  The GORAB protein interacts with the GTP-bound form of the small Ras-like GTPase RAB6.  It has also been shown to interact with the SCYL1, MDM2, and PIRH2 protein.  Studies in mice models have shown that the protein plays a major role in hair follicle morphogenesis by modulating follicular keratinocyte differentiation via the hedgehog signaling pathway.  It has also been speculated to play a role in the secretory pathway and in mitosis by interacting with the N-terminal kinase-like protein. 

Defects in this protein have been associated with Geroderma Osteodysplastica, a disorder characterized by wrinkled skin, lax, joint laxity and a prematurely aged face appearance.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_152281.3:c.231dupSaudi Arabiachr1:170539375-170539379PathogenicPathogenicGeroderma OsteodysplasticumNG_012237.1:g.12258dup; NM_152281.3:c.231dup; NP_689494.3:p.Pro78fs1571243797800784
NM_152281.3:c.658G>CSaudi Arabiachr1:170544841PathogenicPathogenicGeroderma OsteodysplasticumNG_012237.1:g.17720G>C; NM_152281.3:c.658G>C; NP_689494.3:p.Ala220Pro183596463218115
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