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
SHILCA
Chr 1ARnicotinamide nucleotide adenylyltransferase 1
Also known as: LCA9, NMNAT, PNAT1, SHILCA
The protein is a nuclear-localized nicotinamide nucleotide adenylyltransferase that catalyzes a key step in NAD biosynthesis and activates a nuclear deacetylase involved in neuroprotection. Mutations cause autosomal recessive disorders including Leber congenital amaurosis, spondyloepiphyseal dysplasia with sensorineural hearing loss, and intellectual developmental disorder. This gene affects multiple organ systems including the retina, skeletal system, auditory system, and central nervous system.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SHILCA?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
SHILCA · 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