AP2M1 adaptor related protein complex 2 subunit mu 1
Gene ID: 1173, updated on 7-Apr-2024Gene type: protein coding
Also known as: mu2; AP50; MRD60; CLAPM1
- See all available tests in GTR for this gene
- Go to complete Gene record for AP2M1
- Go to Variation Viewer for AP2M1 variants
Summary
This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A mega-analysis of genome-wide association studies for major depressive disorder. GeneReviews: Not available | |
| Intellectual developmental disorder 60 with seizures | See labs |
Genomic context
- Location:
- 3q27.1
- Sequence:
- Chromosome: 3; NC_000003.12 (184174855..184184091)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AP2M1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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
- Variation ViewerRelated Variants
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