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CHIME
Chr 17ARphosphatidylinositol glycan anchor biosynthesis class L
Also known as: CHIME
The encoded enzyme catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis by de-N-acetylating N-acetylglucosaminylphosphatidylinositol in the endoplasmic reticulum. Mutations cause CHIME syndrome, a multisystem disorder affecting colobomas, heart defects, ichthyosiform dermatosis, intellectual disability, and ear abnormalities. Inheritance is autosomal recessive.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CHIME?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
CHIME · 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