Preferred Label : ATP2B3 wt Allele;
NCIt synonyms : Cerebellar Ataxia 2 (X-Linked) Gene; Spinocerebellar Ataxia, X-Linked 1 Gene; PMCA3; CLA2; ATPase, Ca(2 )-Transporting, Plasma Membrane, 3 Gene; OPCA; Plasma Membrane Ca(2 )-ATPase, Type 3 Gene; PMCA3a; SCAX1; ATPase Plasma Membrane Ca2 Transporting 3 wt Allele; ATPase, Ca Transporting, Plasma Membrane 3 Gene;
NCIt definition : Human ATP2B3 wild-type allele is located within Xq28 and is approximately 65 kb in
length. This allele, which encodes plasma membrane calcium-transporting ATPase 3 protein,
is involved in both cation transport and ATP hydrolysis. Mutation of the gene is associated
with spinocerebellar ataxia, X-linked type 1.;
GenBank Accession Number : U60414;
Origin ID : C113766;
UMLS CUI : C3811222;
- Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_involved_in_pathogenesis_of_disease
- gene_is_element_in_pathway
- gene_plays_role_in_process