AP3B1 adaptor related protein complex 3 subunit beta 1
Gene ID: 8546, updated on 11-Apr-2024Gene type: protein coding
Also known as: PE; HPS; HPS2; ADTB3; ADTB3A
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- Go to complete Gene record for AP3B1
- Go to Variation Viewer for AP3B1 variants
Summary
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study. GeneReviews: Not available | |
| Hermansky-Pudlak syndrome 2 | See labs |
Genomic context
- Location:
- 5q14.1
- Sequence:
- Chromosome: 5; NC_000005.10 (78000522..78294698, complement)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AP3B1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Albinism Database Mutations of the b3A subunit of the AP-3 complex gene
- AP3B1 database
- AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- Variation ViewerRelated Variants
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