BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4
Gene ID: 55330, updated on 17-Jun-2024Gene type: protein coding
Also known as: CNO; BLOS4; BCAS4L
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- Go to complete Gene record for BLOC1S4
- Go to Variation Viewer for BLOC1S4 variants
Summary
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]
Genomic context
- Location:
- 4p16.1
- Sequence:
- Chromosome: 4; NC_000004.12 (6716174..6717664)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BLOC1S4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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