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APMR1
ARAlopecia-mental retardation syndrome
The protein encoded by this gene functions as an aminopeptidase involved in protein processing and cellular metabolism. Autosomal recessive mutations cause alopecia-intellectual disability syndrome 1, which presents with hair loss and developmental delays affecting cognitive function. This represents a rare syndromic form of intellectual disability with distinctive dermatological features.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/APMR1?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
APMR1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools