KCNB1 wt Allele

Preferred Label : KCNB1 wt Allele;

NCIt synonyms : Potassium Channel, Voltage-Gated, Shab-Related Subfamily, Member 1 Gene; DRK1; Potassium Voltage-Gated Channel Subfamily B Member 1 wt Allele; DEE26; Potassium Voltage-Gated Channel, Shab-Related Subfamily, Member 1 Gene; Kv2.1;

NCIt definition : Human KCNB1 wild-type allele is located in the vicinity of 20q13.13 and is approximately 191 kb in length. This allele, which encodes potassium voltage-gated channel subfamily B member 1 protein, plays a role in the modulation of repolarization, duration and frequency of repetitive AP firing. Mutation of the gene is associated with developmental and epileptic encephalopathy 26.;

NCI Metathesaurus CUI : CL1799277;

GenBank Accession Number : AF026005;

Details

Origin ID

C190854;

UMLS CUI

C5780982;

OMIM relation
- Potassium channel, voltage-gated, shab-related subfamily, member 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20q13.13 [NCIt concept]
gene_plays_role_in_process
- Exocytosis [NCIt concept]
- Homeostatic Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Potassium Channel Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
- Voltage-Gated Potassium Ion Channel Activation [NCIt concept]

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