KCNE1L

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KCNE5
Identifiers
Aliases KCNE5, KCNE1L, potassium voltage-gated channel subfamily E regulatory subunit 5
External IDs MGI: 1913490 HomoloGene: 8177 GeneCards: 23630
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012282

NM_021487

RefSeq (protein)

NP_036414.1

NP_067462.1

Location (UCSC) Chr X: 109.62 – 109.63 Mb Chr X: 142.3 – 142.31 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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

Function[edit]

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[edit]

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[edit]

  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. doi:10.1006/geno.1999.5904. PMID 10493825. 
  2. ^ a b "Entrez Gene: KCNE1L". 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.