The p4ha1 gene encodes the alpha subunit of prolyl 4-hydroxylase, an enzyme localized to the endoplasmic reticulum that catalyzes the hydroxylation of proline residues in collagen chains, a necessary s...[+]

The p4ha1 gene encodes the alpha subunit of prolyl 4-hydroxylase, an enzyme localized to the endoplasmic reticulum that catalyzes the hydroxylation of proline residues in collagen chains, a necessary step for the proper folding and stability of triple-helical collagen molecules during embryonic development; its expression is associated with structures including the notochord, somites, neural tube, branchial arches, cement gland, otic vesicle, pronephros, and developing fins. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD