SPTLC1 wt Allele

Preferred Label : SPTLC1 wt Allele;

NCIt synonyms : HSN1; SPTI; Serine Palmitoyltransferase, Long Chain Base Subunit 1 wt Allele; Serine Palmitoyltransferase, Long-Chain Base Subunit 1 Gene; HSAN1; SPT1; LBC1; Hereditary Sensory Neuropathy, Type 1 Gene; LCB1;

NCIt definition : Human SPTLC1 wild-type allele is located in the vicinity of 9q22.2 and is approximately 84 kb in length. This allele, which encodes serine palmitoyltransferase 1 protein, is involved in the metabolism of lipids. Mutation of the gene is associated with hereditary sensory neuropathy type IA.;

NCI Metathesaurus CUI : CL509549;

GenBank Accession Number : Y08685;

Details

Origin ID

C127889;

UMLS CUI

C4284344;

Automatic exact mappings (from CISMeF team)
- Hereditary sensory and autonomic neuropathy type 1 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type I [ICD-11 Subcategory]
- Hereditary sensory neuropathy-deafness-dementia syndrome [ORDO Disease]
- Neuropathy, hereditary sensory and autonomic, type ia [OMIM Phenotype]
- Serine palmitoyltransferase, long-chain base subunit 1 [OMIM gene]
- serine palmitoyltransferase long chain base subunit 1 [ORDO Gene]
OMIM relation
- Serine palmitoyltransferase, long-chain base subunit 1 [OMIM gene]
See also inter- (CISMeF)
- hereditary sensory and autonomic neuropathy type 1 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Sphingolipid Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Lipid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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