2okn | pdb_00002okn
Crystal Strcture of Human Prolidase
Disease
[PEPD_HUMAN] Defects in PEPD are a cause of prolidase deficiency (PD) [MIM:170100]. Prolidase deficiency is an autosomal recessive disorder associated with iminodipeptiduria. The clinical phenotype includes skin ulcers, mental retardation, recurrent infections, and a characteristic facies. These features, however are incompletely penetrant and highly variable in both age of onset and severity. There is a tight linkage between the polymorphisms of prolidase and the myotonic dystrophy trait.[1][2][3][4]
Function
[PEPD_HUMAN] Splits dipeptides with a prolyl or hydroxyprolyl residue in the C-terminal position. Plays an important role in collagen metabolism because the high level of iminoacids in collagen.
About this Structure
2okn is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- ↑ Tanoue A, Endo F, Kitano A, Matsuda I. A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells. J Clin Invest. 1990 Jul;86(1):351-5. PMID:2365824 doi:https://dx.doi.org/10.1172/JCI114708
- ↑ Ledoux P, Scriver C, Hechtman P. Four novel PEPD alleles causing prolidase deficiency. Am J Hum Genet. 1994 Jun;54(6):1014-21. PMID:8198124
- ↑ Ledoux P, Scriver CR, Hechtman P. Expression and molecular analysis of mutations in prolidase deficiency. Am J Hum Genet. 1996 Nov;59(5):1035-9. PMID:8900231
- ↑ Forlino A, Lupi A, Vaghi P, Icaro Cornaglia A, Calligaro A, Campari E, Cetta G. Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts. Hum Genet. 2002 Oct;111(4-5):314-22. Epub 2002 Aug 14. PMID:12384772 doi:10.1007/s00439-002-0792-5
Proteopedia Page Contributors and Editors (what is this?)
- Homo sapiens
- Xaa-Pro dipeptidase
- Behlke, J.
- Buessow, K.
- Goetz, F.
- Heinemann, U.
- Mueller, U.
- Niesen, F H.
- PSF, Protein Structure Factory.
- Roske, Y.
- Collagen degradation
- Dipeptidase
- Disease mutation
- Enzyme
- Hydrolase
- Manganese
- Metal-binding
- Metalloaminopeptidase
- Metallocarboxypeptidase
- Metalloprotease
- Pepd gene
- Peptidase d
- Phosphorylation
- Protease
- Protein structure factory
- Psf
- Structural genomic
- Xaa-pro dipeptidase
