P4HA1, Official Symbol P4HA1provided by HGNC Official Full Name prolyl 4-hydroxylase subunit alpha 1provided by HGNC Primary source HGNC:HGNC:8546 See related Ensembl:ENSG00000122884 MIM:176710; AllianceGenome:HGNC:8546 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 P4HA Summary This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 35.1), liver (RPKM 30.4) and 24 other tissues See more Orthologs mouse all