AP2M1 Chromosome 3
Adaptor related protein complex 2 subunit mu 1
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What This Gene Does
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]
Gene Info
Gene Group
Adaptor related protein complex 2
Locus Type
gene with protein product
Location
3q27.1
Ensembl
ENSG00000161203
Associated Conditions (3)
Inborn genetic diseases
AP2M1-related disorder
Intellectual developmental disorder 60 with seizures
Key Variants
RS1344972426
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372570685
Conflicting classifications of pathogenicity
AP2M1-related disorder, AP2M1-related disorder
Health Risk
RS772648593
Conflicting classifications of pathogenicity
Health Risk
RS1577059692
Pathogenic/Likely pathogenic
Intellectual developmental disorder 60 with seizures, Inborn genetic diseases, Intellectual developmental disorder 60 with seizures
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1344972426 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372570685 | Health Risk | Conflicting classifications of pathogenicity | AP2M1-related disorder, AP2M1-related disorder |
| RS772648593 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1577059692 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder 60 with seizures, Inborn genetic diseases, Intellectual developmental disorder 60 with seizures |