World Of Taxonomy
C219521Level 6

KCNH1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human KCNH1 wild-type allele is located in the vicinity of 1q32.2 and is approximately 457 kb in length. This allele, which encodes voltage-gated delayed rectifier potassium channel KCNH1 protein, is involved in pore formation and sustained activation of certain potassium ion channels. Mutations in the gene are associated with Temple-Baraitser syndrome and Zimmermann-Laband syndrome 1.

**Synonyms:** - EAG - EAG1 - Ether-A-Go-Go 1 Gene - Ether-A-Go-Go, Drosophila, Homolog of Gene - K(V)10.1 - Kv10.1 - Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 1 Gene - Potassium Channel, Voltage-Gated, Subfamily H, Member 1 Gene - Potassium Voltage-Gated Channel Subfamily H Member 1 wt Allele - Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 1 Gene - TMBTS - ZLS1 - h-eag - hEAG - hEAG1

GET/api/v1/systems/nci_thesaurus/nodes/C219521
Official DownloadCC BY 4.0Source

Hierarchy Explorer

Loading...

Cross-system equivalences0

No cross-system equivalences mapped for this node.