HGCLAS
Chr 4ARlipoic acid synthetase
Also known as: HGCLAS, HUSSY-01, LAS, LIP1, LS, PDHLD
The encoded mitochondrial iron-sulfur enzyme catalyzes the final step in lipoic acid biosynthesis, a potent antioxidant essential for mitochondrial metabolism. Mutations cause hyperglycinemia, lactic acidosis, and seizures with neonatal onset through autosomal recessive inheritance. This severe metabolic disorder affects the central nervous system and mitochondrial energy production.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HGCLAS?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
HGCLAS · 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