Prolyl 3-Hydroxylase 1

Alternative Names

  • P3H1
  • Leucine- and Proline-Enriched Proteoglycan 1
  • LEPRE1
  • Leprecan
  • Growth Suppressor 1
  • GROS1
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OMIM Number

610339

NCBI Gene ID

64175

Uniprot ID

Q32P28

Length

20,655 bases

No. of Exons

16

No. of isoforms

4

Protein Name

Prolyl 3-hydroxylase 1

Molecular Mass

83394 Da

Amino Acid Count

736

Genomic Location

chr1:42,746,373-42,767,027

Gene Map Locus
1p34.2

Description

This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [From RefSeq]

Epidemiology in the Arab World

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