Prolyl 3-Hydroxylase 2

Alternative Names

  • P3H2
  • Leprecan-Like 1
  • LEPREL1
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OMIM Number

610341

NCBI Gene ID

55214

Uniprot ID

Q8IVL5

Length

165,551 bases

No. of Exons

17

No. of isoforms

2

Protein Name

Prolyl 3-hydroxylase 2

Molecular Mass

80984 Da

Amino Acid Count

708

Genomic Location

chr3:189,956,727-190,122,277

Gene Map Locus
3q28

Description

This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_018192.4:c.1543_1546delUnited Arab EmiratesNC_000003.12:g.189973911_189973914delMyopia, High, With Cataract And Vitreoretinal DegenerationNG_031929.1:g.153524_153527del; NM_018192.4:c.1543_1546del; NP_060662.2:p.Leu515AsnfsTer10
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