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

More general terms

• glycoprotein
• K+ channel subfamily E

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=23630
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:23630
• OMIM: https://mirror.omim.org/entry/300194
• OMIM: https://mirror.omim.org/entry/300328
• UniProt: http://www.uniprot.org/uniprot/Q9UJ90.html