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Open Access Articles- Top Results for KCNH5

KCNH5

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Identifiers
SymbolsKCNH5 ; EAG2; H-EAG2; Kv10.2; hEAG2
External IDsOMIM605716 MGI3584508 HomoloGene15858 IUPHAR: 571 GeneCards: KCNH5 Gene
RNA expression pattern
File:PBB GE KCNH5 gnf1h06293 at tn.png
File:PBB GE KCNH5 gnf1h08083 at tn.png
File:PBB GE KCNH5 gnf1h09304 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez27133238271
EnsemblENSG00000140015ENSMUSG00000034402
UniProtQ8NCM2Q920E3
RefSeq (mRNA)NM_139318NM_172805
RefSeq (protein)NP_647479NP_766393
Location (UCSC)Chr 14:
63.17 – 63.57 Mb
Chr 12:
74.9 – 75.18 Mb
PubMed search[1][2]

Potassium voltage-gated channel, subfamily H (eag-related), member 5, also known as KCNH5, is a human gene encoding the Kv10.2 protein. [1]

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. This gene is not expressed in differentiating myoblasts. Alternative splicing results in three transcript variants encoding distinct isoforms.[1]

Mutations in this gene have been linked to cases of early onset Epilepsy.(10.1111/epi.12201)

References

Further reading

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