Aliases for P4HA1 Gene
- Prolyl 4-Hydroxylase Subunit Alpha 1 2 3 5
- Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Alpha Polypeptide I 2 3
- Procollagen-Proline,2-Oxoglutarate-4-Dioxygenase Subunit Alpha-1 3 4
- Prolyl 4-Hydroxylase, Alpha Polypeptide I 2 3
- Collagen Prolyl 4-Hydroxylase Alpha(I) 2 3
- P4HA 3 4
External Ids for P4HA1 Gene
Previous HGNC Symbols for P4HA1 Gene
Previous GeneCards Identifiers for P4HA1 Gene
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]
GeneCards Summary for P4HA1 Gene
P4HA1 (Prolyl 4-Hydroxylase Subunit Alpha 1) is a Protein Coding gene. Diseases associated with P4HA1 include Musculocontractural Ehlers-Danlos Syndrome. Among its related pathways are Collagen chain trimerization and Arginine and proline metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is P4HA2.
UniProtKB/Swiss-Prot for P4HA1 Gene
Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.