2p39: Difference between revisions
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{{STRUCTURE_2p39| PDB=2p39 | SCENE= }} | {{STRUCTURE_2p39| PDB=2p39 | SCENE= }} | ||
===Crystal structure of human FGF23=== | |||
{{ABSTRACT_PUBMED_17339340}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/FGF23_HUMAN FGF23_HUMAN]] Defects in FGF23 are the cause of autosomal dominant hypophosphataemic rickets (ADHR) [MIM:[http://omim.org/entry/193100 193100]]. ADHR is characterized by low serum phosphorus concentrations, rickets, osteomalacia, leg deformities, short stature, bone pain and dental abscesses.<ref>PMID:11062477</ref><ref>PMID:11409890</ref><ref>PMID:16638743</ref> Defects in FGF23 are a cause of hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:[http://omim.org/entry/211900 211900]]. HFTC is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues.<ref>PMID:15590700</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/FGF23_HUMAN FGF23_HUMAN]] Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization.<ref>PMID:11062477</ref><ref>PMID:11409890</ref><ref>PMID:15040831</ref><ref>PMID:16597617</ref><ref>PMID:18282132</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:017339340</ref><references group="xtra"/> | <ref group="xtra">PMID:017339340</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Mohammadi, M.]] | [[Category: Mohammadi, M.]] | ||
[[Category: Atypical beta-trefoil fold]] | [[Category: Atypical beta-trefoil fold]] | ||
[[Category: Signaling protein]] | [[Category: Signaling protein]] | ||
