SMPD1 wt Allele

Preferred Label : SMPD1 wt Allele;

NCIt synonyms : ASMASE; Sphingomyelin Phosphodiesterase 1, Acid Lysosomal wt Allele; NPD; ASM; Sphingomyelinase, Acid Gene;

NCIt definition : Human SMPD1 wild-type allele is located within 11p15.4-p15.1 and is approximately 5 kb in length. This allele, which encodes sphingomyelin phosphodiesterase protein, is involved in ceramide biosynthesis. Mutation of the gene is associated with Niemann-Pick disease type A and type B.;

GenBank Accession Number : AB209775;

Détails

Origin ID

C105020;

UMLS CUI

C3539725;

Automatic exact mappings (from CISMeF team)
- Acid sphingomyelinase [LOINC component]
- Allele-specific deoxyribonucleic acid methylation [OMIConto index]
- H19 imprinted maternally expressed transcript [ORDO Gene]
- H19, imprinted maternally expressed noncoding transcript [OMIM gene]
- Sphingomyelin phosphodiesterase 1, acid lysosomal [OMIM gene]
- aggressive systemic mastocytosis [DO Concept]
- depression, postpartum [MeSH Descriptor]
- neodymium pyrocatechin disulfonate [MeSH Supplementary Concept]
- prenatal diagnosis [MeSH Descriptor]
- sphingomyelin phosphodiesterase 1 [ORDO Gene]
OMIM relation
- Sphingomyelin phosphodiesterase 1, acid lysosomal [OMIM gene]
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
- Ceramide Signaling Pathway BioCarta [NCIt concept]
- Ceramide Signaling Pathway PID [NCIt concept]
- FAS Signaling Pathway PID [NCIt concept]
- IL2/PI3K Signaling Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
- Sphingolipid Metabolism Pathway [NCIt concept]
- TNF Receptor Family Signaling Pathway [NCIt concept]
- TRAIL Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]
- Signal Transduction [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients