full name
potassium voltage-gated channel subfamily H member 1

synonyms
EAG, EAG1, h-eag, Kv10.1, KCNH1, ENSG00000143473

HGNC
HGNC:6250

Entrez Gene
Gene:3756

ENSEMBL
ENSG00000143473

location
chr: 1
start: 210851657
stop: 211307457
strand: -

OMIM
OMIM:603305: KCNH1 (Autosomal recessive inheritance)
OMIM:611816: Temple-Baraitser syndrome
OMIM:135500: Zimmermann-Laband syndrome 1

transcripts
NM_002238.3
NM_172362.2

pathways
Neuronal System [NCBI:1268763] [REACTOME:R-HSA-112316]
Potassium Channels [NCBI:1268821] [REACTOME:R-HSA-1296071] [PUBMED:20813163] [PUBMED:19584315] [PUBMED:1822292] [PUBMED:18446619] [PUBMED:18413784] [PUBMED:20213494] [PUBMED:20086079]
Voltage gated Potassium channels [NCBI:1268830] [REACTOME:R-HSA-1296072] [PUBMED:18446619] [PUBMED:20393197]