Aliases for KEL Gene
External Ids for KEL Gene
Previous GeneCards Identifiers for KEL Gene
This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008]
GeneCards Summary for KEL Gene
KEL (Kell Blood Group, Metallo-Endopeptidase) is a Protein Coding gene. Diseases associated with KEL include Lingual-Facial-Buccal Dyskinesia and Choreoacanthocytosis. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. GO annotations related to this gene include metalloendopeptidase activity and metallopeptidase activity. An important paralog of this gene is EEF1AKMT4.
UniProtKB/Swiss-Prot for KEL Gene
Zinc endopeptidase with endothelin-3-converting enzyme activity. Cleaves EDN1, EDN2 and EDN3, with a marked preference for EDN3.