CANT1 wt Allele

Preferred Label : CANT1 wt Allele;

NCIt synonyms : DBQD; Calcium Activated Nucleotidase 1 wt Allele; SHAPY; SCAN1; Ca2 -Dependent Endoplasmic Reticulum Nucleoside Diphosphatase Gene; Soluble Ca-Activated Nucleotidase, Isozyme 1 Gene; Micromelic Dwarfism With Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification Gene; SCAN-1; Soluble Calcium-Activated Nucleotidase SCAN-1 Gene;

NCIt definition : Human CANT1 wild-type allele is located in the vicinity of 17q25.3 and is approximately 18 kb in length. This allele, which encodes soluble calcium-activated nucleotidase 1 protein, is involved in the modulation of both signaling and nucleotide hydrolysis. Both deletions and point mutations in the gene are associated with Desbuquois dysplasia.;

GenBank Accession Number : AJ312208;

Details

Origin ID

C97376;

UMLS CUI

C3273383;

Automatic exact mappings (from CISMeF team)
- Calcium-activated nucleotidase 1 [OMIM gene]
- Desbuquois syndrome [ORDO Disease]
- Radnuc [LOINC method]
- Spinocerebellar ataxia with axonal neuropathy type 1 [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [OMIM Phenotype]
- calcium activated nucleotidase 1 [ORDO Gene]
- radionuclide imaging [MeSH Descriptor]
- spinocerebellar ataxia type 1 with axonal neuropathy [DO Concept]
- tyrosyl-DNA phosphodiesterase 1 [ORDO Gene]
OMIM relation
- Calcium-activated nucleotidase 1 [OMIM gene]
See also inter- (CISMeF)
- Desbuquois dysplasia 1 [OMIM Phenotype]
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_in_chromosomal_location
- 17q25.3 [NCIt concept]
gene_is_element_in_pathway
- Purine Metabolism Pathway [NCIt concept]
- Pyrimidine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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