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Gene : PLOD1 Homo sapiens

Name  ? procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Cytological Location  1p36.22
Brief Description  procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
description  Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
  • synonyms:
  • uc001atm.4,
  • OTTHUMG00000002393,
  • EDSKCL1,
  • procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI),
  • PLOD,
  • PLOD,
  • LLH,
  • BC016657,
  • LH1,
  • EDS6,
  • HGNC:9081,
  • LH1,
  • NM_000302,
  • LLH,
  • LH,
  • lysyl hydroxlase 1,
  • PLOD1
  • identifiers:
  • 5351,
  • ENSG00000083444,
  • PLOD1

Genome feature

Region: gene ? Length: 40876  
Location: 1:11934667-11975542 Cyto location: 1p36.22


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Disease

1 Diseases

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624 SN Ps

5 Cross References

20 Data Sets

10 Homologues

0 Located Features

90 Rna Seq Results