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APMR2
Chr 3ARAlopecia with mental retardation syndrome 2
This protein functions as a key component of the Golgi apparatus involved in protein trafficking and processing. Mutations cause alopecia-intellectual disability syndrome 2, an autosomal recessive disorder characterized by hair loss and cognitive impairment. The condition affects both ectodermal development and neurological function.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/APMR2?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
APMR2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
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Links to major genomics databases and tools