Gene: P4HA2

Alternate names for this Gene: MYP25

Gene 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.1

Description of this Gene: prolyl 4-hydroxylase subunit alpha 2

Type of Gene: protein-coding

Gene: PDLIM4

Alternate names for this Gene: RIL

Gene Summary: This gene encodes a protein which may be involved in bone development. Mutations in this gene are associated with susceptibility to osteoporosis.

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.1

Description of this Gene: PDZ and LIM domain 4

Type of Gene: protein-coding

rs7735891 in P4HA2;PDLIM4 gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs10479001 in P4HA2;PDLIM4 gene and RDW - Red blood cell distribution width result PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs10479001 in P4HA2;PDLIM4 gene and Red cell distribution width determination PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.