GORAB golgin, RAB6 interacting
Gene ID: 92344, updated on 5-Mar-2024Gene type: protein coding
Also known as: GO; NTKLBP1; SCYL1BP1
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- Go to complete Gene record for GORAB
- Go to Variation Viewer for GORAB variants
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-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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Geroderma osteodysplastica | See labs |
Genomic context
- Location:
- 1q24.2
- Sequence:
- Chromosome: 1; NC_000001.11 (170532166..170553834)
- Total number of exons:
- 7
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for GORAB variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GORAB database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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