SPTA1 wt Allele

Preferred Label : SPTA1 wt Allele;

NCIt synonyms : Alpha-I Spectrin Gene; Spectrin, Alpha, Erythrocytic 1 (Elliptocytosis 2) Gene; Spectrin Alpha, Erythrocytic 1 wt Allele; Elliptocytosis 2 Gene; Spectrin Alpha Chain, Erythrocyte Gene; SPH3; HS3; HPP; Spectrin, Alpha, Erythrocytic 1 Gene; SPTA; EL2;

NCIt definition : Human SPTA1 wild-type allele is located in the vicinity of 1q23.1 and is approximately 76 kb in length. This allele, which encodes spectrin alpha chain, erythrocytic 1 protein, plays a role in erythrocyte membrane morphology. Mutations in the gene are associated with elliptocytosis-2, hereditary pyropoikilocytosis and type 3 spherocytosis.;

NCI Metathesaurus CUI : CL1412974;

GenBank Accession Number : M61877;

Details

Origin ID

C175651;

UMLS CUI

C5444084;

Automatic exact mappings (from CISMeF team)
- Dna, satellite, III [OMIM Phenotype]
- Elliptocytosis 2 [OMIM Phenotype]
- Hereditary pyropoikilocytosis (disorder) [SNOMED CT concept]
- Hypophosphatasia [ORDO Disease]
- Pyropoikilocytosis, hereditary [OMIM Phenotype]
- Spherocytosis, type 3 [OMIM Phenotype]
- allopurinol [MeSH Descriptor]
- hereditary spherocytosis type 3 [DO Concept]
- paralysis, hyperkalemic periodic [MeSH Descriptor]
- postpartum hemorrhage [MeSH Descriptor]
- spectrin alpha, erythrocytic 1 [ORDO Gene]
OMIM relation
- Spectrin, alpha, erythrocytic 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Apoptosis Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients