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K+ voltage-gated channel subfamily E member 1-like protein; AMME syndrome candidate gene 2 protein (KCNE1L, AMMECR2)
Structure:
- belongs to the K+ channel KCNE family
Compartment:
- membrane; single-pass type 1 membrane protein
Expression:
- highly expressed in heart, skeletal muscle, brain, spinal cord & placenta
Pathology:
- defects in KCNE1L are involved in Alport syndrome with mental retardation midface hypoplasia & elliptocytosis
General
glycoprotein
K+ channel subfamily E
Properties
SIZE: entity length = 142 aa
MW = 15 kD
COMPARTMENT: cellular membrane
MOTIF: N-glycosylation site {N2}
N-glycosylation site {N25}
transmembrane domain {61-81}
ION-PERMEABILITY: K+
Database Correlations
OMIM correlations
UniProt Q9UJ90
Entrez Gene 23630
Kegg hsa:23630
References
UniProt :accession Q9UJ90