PLN wt Allele - CISMeF

Preferred Label : PLN wt Allele;

NCIt synonyms : Phospholamban wt Allele; CMD1P; CMH18; PLB;

NCIt definition : Human PLN wild-type allele is located in the vicinity of 6q22.31 and is approximately 13 kb in length. This allele, which encodes cardiac phospholamban protein, plays a role in calcium re-uptake during muscle relaxation and the inhibition of calcium transport by sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (ATP2A2). Mutations in the gene are associated with dilated cardiomyopathy 1P and hypertrophic cardiomyopathy 18.;

NCI Metathesaurus CUI : CL1926582;

GenBank Accession Number : NM_002667;

Details

Origin ID

C204499;

UMLS CUI

C5890875;

OMIM relation
- Phospholamban [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
gene_plays_role_in_process
- Blood Circulation [NCIt concept]
- Calcium Homeostasis [NCIt concept]
- Cardiac Muscle Contraction [NCIt concept]
- Myogenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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