HEPH, Official Symbol HEPHprovided by HGNC Official Full Name hephaestinprovided by HGNC Primary source HGNC:HGNC:4866 See related Ensembl:ENSG00000089472 MIM:300167; AllianceGenome:HGNC:4866 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CPL Summary This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Broad expression in small intestine (RPKM 39.0), colon (RPKM 38.6) and 16 other tissues See more Orthologs mouse all