P4HA2 Chromosome 5
Prolyl 4-hydroxylase subunit alpha 2
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What This Gene Does
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]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
5q31.1
Ensembl
ENSG00000072682
Associated Conditions (2)
Myopia 25
autosomal dominant
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1135402746 | Health Risk | Pathogenic | Myopia 25, autosomal dominant, Myopia 25 |
| RS764211125 | Health Risk | Pathogenic | Myopia 25, autosomal dominant, Myopia 25 |