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Gene : P3H2 Homo sapiens

Name  ? prolyl 3-hydroxylase 2 Cytological Location  3q28
Brief Description  prolyl 3-hydroxylase 2
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. [provided by RefSeq, Dec 2011]
  • synonyms:
  • HGNC:19317,
  • LEPREL1,
  • MLAT4,
  • FLJ10718,
  • procollagen-proline 3-dioxygenase 2,
  • P3H2,
  • MCVD,
  • MLAT4,
  • OTTHUMG00000156312,
  • LEPREL1,
  • NM_018192,
  • leprecan-like 1
  • identifiers:
  • 55214,
  • ENSG00000090530,
  • P3H2

Genome feature

Region: gene ? Length: 165710  
Location: 3:189956728-190122437 reverse strand Cyto location: 3q28


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Disease

1 Diseases

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2011 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results