P4HA2 gene

prolyl 4-hydroxylase subunit alpha 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.

From UniProt:

P4HA2 mutations may be a cause of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far.

Cytogenetic Location: 5q31.1, which is the long (q) arm of chromosome 5 at position 31.1

Molecular Location: base pairs 132,190,147 to 132,227,863 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q31.1, which is the long (q) arm of chromosome 5 at position 31.1