2ger: Difference between revisions
m Protected "2ger" [edit=sysop:move=sysop] |
No edit summary |
||
| Line 1: | Line 1: | ||
{{STRUCTURE_2ger| PDB=2ger | SCENE= }} | {{STRUCTURE_2ger| PDB=2ger | SCENE= }} | ||
===Crystal Structure and Oxidative Mechanism of Human Pyrroline-5-carboxylate Reductase=== | |||
{{ABSTRACT_PUBMED_16730026}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/P5CR1_HUMAN P5CR1_HUMAN]] Defects in PYCR1 are the cause of cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:[http://omim.org/entry/612940 612940]]. A multisystem disorder characterized by the appearance of premature aging, wrinkled and lax skin with reduced elasticity, joint laxity, craniofacial dysmorphic features, intrauterine growth retardation with some degree of postnatal growth deficiency, and developmental delay.<ref>PMID:19648921</ref><ref>PMID:19576563</ref> Defects in PYCR1 are the cause of cutis laxa, autosomal recessive, type 3B (ARCL3B) [MIM:[http://omim.org/entry/614438 614438]]. ARCL3B is a disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa.<ref>PMID:19648921</ref><ref>PMID:22052856</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/P5CR1_HUMAN P5CR1_HUMAN]] Housekeeping enzyme that catalyzes the last step in proline biosynthesis. Can utilize both NAD and NADP, but has higher affinity for NAD. Involved in the cellular response to oxidative stress.<ref>PMID:19648921</ref><ref>PMID:16730026</ref> | |||
==About this Structure== | ==About this Structure== | ||
| Line 14: | Line 16: | ||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID:016730026</ref><references group="xtra"/> | <ref group="xtra">PMID:016730026</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Pyrroline-5-carboxylate reductase]] | [[Category: Pyrroline-5-carboxylate reductase]] | ||