AP3M2 adaptor related protein complex 3 subunit mu 2
Gene ID: 10947, updated on 10-Oct-2024Gene type: protein coding
Also known as: P47B; AP47B; CLA20
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- Go to complete Gene record for AP3M2
- Go to Variation Viewer for AP3M2 variants
Summary
This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008]
Genomic context
- Location:
- 8p11.21
- Sequence:
- Chromosome: 8; NC_000008.11 (42153063..42171183)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AP3M2 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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