HLCS wt Allele

Preferred Label : HLCS wt Allele;

NCIt synonyms : Holocarboxylase Synthetase (Biotin-(Proprionyl-Coenzyme A-Carboxylase (ATP-Hydrolysing)) Ligase) Gene; Holocarboxylase Synthetase (Biotin-(Proprionyl-CoA-Carboxylase (ATP-Hydrolysing)) Ligase) Gene; Biotin--[Acetyl-CoA-Carboxylase] Ligase Gene; HCS; Biotin--[Methylmalonyl-CoA-Carboxytransferase] Ligase Gene; Biotin--[Methylcrotonoyl-CoA-Carboxylase] Ligase Gene; Biotin-[Acetyl-CoA-Carboxylase] Ligase Gene; Holocarboxylase Synthetase (Biotin-[Proprionyl-Coenzyme A-Carboxylase (ATP-Hydrolysing)] Ligase) Gene; Holocarboxylase Synthetase wt Allele;

NCIt definition : Human HLCS wild-type allele is located in the vicinity of 21q22.13 and is approximately 242 kb in length. This allele, which encodes biotin-protein ligase protein, is involved in the biotinylation of enzymes involved in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Loss of function mutations in the gene are associated with holocarboxylase synthetase deficiency.;

NCI Metathesaurus CUI : CL1799195;

GenBank Accession Number : NM_000411;

Details

Origin ID

C190515;

UMLS CUI

C5780753;

Automatic exact mappings (from CISMeF team)
- Human placental lactogen (substance) [SNOMED CT concept]
- Hypotonia-cystinuria syndrome [ORDO Disease]
- Hypotonia-cystinuria syndrome [ICD-11 More detail]
- biotin-[acetyl-CoA-carboxylase] ligase activity [GO term]
- cytochrome c, somatic [ORDO Gene]
OMIM relation
- Holocarboxylase synthetase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Holocarboxylase synthetase [OMIM gene]
- holocarboxylase synthetase [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Biotin Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Post-Translational Modification [NCIt concept]

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