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KCNE1L

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Identifiers
SymbolsKCNE1L ; KCNE5
External IDsOMIM300328 MGI1913490 HomoloGene8177 GeneCards: KCNE1L Gene
Orthologs
SpeciesHumanMouse
Entrez2363066240
EnsemblENSG00000176076ENSMUSG00000090122
UniProtQ9UJ90Q9QZ26
RefSeq (mRNA)NM_012282NM_021487
RefSeq (protein)NP_036414NP_067462
Location (UCSC)Chr X:
108.87 – 108.87 Mb
Chr X:
142.3 – 142.31 Mb
PubMed search[1][2]

KCNE1-like also known as KCNE1L is a protein that in humans is encoded by the KCNE1L gene.[1][2]

Function

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 membrane protein that has sequence similarity to the KCNE1 gene product, a member of the potassium channel, voltage-gated, isk-related subfamily.[2]

Clinical significance

This intronless gene is deleted in AMME contiguous gene syndrome and may be involved in the cardiac and neurologic abnormalities found in the AMME contiguous gene syndrome.[1]

References

  1. ^ a b Piccini M, Vitelli F, Seri M, Galietta LJ, Moran O, Bulfone A, Banfi S, Pober B, Renieri A (September 1999). "KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs". Genomics 60 (3): 251–7. PMID 10493825. doi:10.1006/geno.1999.5904. 
  2. ^ a b "Entrez Gene: KCNE1L". 

Further reading

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