Ensembl is currently experiencing issues
The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.
You can check Ensembl's status at status.ensembl.org
APMR4
Chr 21ARlanosterol synthase
Also known as: APMR4, CTRCT44, HYPT14, OSC
The protein catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol, representing the first step in cholesterol, steroid hormone, and vitamin D biosynthesis. Biallelic mutations cause alopecia-intellectual disability syndrome 4, an autosomal recessive disorder affecting hair development and cognitive function. This condition involves both dermatologic and neurologic manifestations due to disrupted sterol biosynthesis.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/APMR4?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
APMR4 · 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 →External Resources
Links to major genomics databases and tools