1m4u

<table><tr><td colspan='2'>[[1m4u]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1M4U OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=1M4U FirstGlance]. <br>

<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://proteopedia.org/fgij/fg.htm?mol=1m4u FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1m4u OCA], [http://pdbe.org/1m4u PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1m4u RCSB], [http://www.ebi.ac.uk/pdbsum/1m4u PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1m4u ProSAT]</span></td></tr>

== Disease ==

[[http://www.uniprot.org/uniprot/NOGG_HUMAN NOGG_HUMAN]] Defects in NOG are a cause of symphalangism proximal syndrome (SYM1) [MIM:[http://omim.org/entry/185800 185800]]. SYM1 is characterized by the hereditary absence of the proximal interphalangeal (PIP) joints (Cushing symphalangism). Severity of PIP joint involvement diminishes towards the radial side. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conducive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone.<ref>PMID:10080184</ref> <ref>PMID:11846737</ref> <ref>PMID:11857750</ref> <ref>PMID:15770128</ref> Defects in NOG are the cause of multiple synostoses syndrome type 1 (SYNS1) [MIM:[http://omim.org/entry/186500 186500]]; also known as synostoses, multiple, with brachydactyly/symphalangism-brachydactyly syndrome. SYNS1 is characterized by tubular-shaped (hemicylindrical) nose with lack of alar flare, otosclerotic deafness, and multiple progressive joint fusions commencing in the hand. The joint fusions are progressive, commencing in the fifth proximal interphalangeal joint in early childhood (or at birth in some individuals) and progressing in an ulnar-to-radial and proximal-to-distal direction. With increasing age, ankylosis of other joints, including the cervical vertebrae, hips, and humeroradial joints, develop.<ref>PMID:20503332</ref> Defects in NOG are the cause of tarsal-carpal coalition syndrome (TCC) [MIM:[http://omim.org/entry/186570 186570]]. TCC is an autosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families.<ref>PMID:11545688</ref> Defects in NOG are a cause of stapes ankylosis with broad thumb and toes (SABTS) [MIM:[http://omim.org/entry/184460 184460]]; also known as Teunissen-Cremers syndrome. SABTS is a congenital autosomal dominant disorder that includes hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism.<ref>PMID:12089654</ref> Defects in NOG are the cause of brachydactyly type B2 (BDB2) [MIM:[http://omim.org/entry/611377 611377]]. BDB2 is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly.<ref>PMID:17668388</ref>

[[http://www.uniprot.org/uniprot/BMP7_HUMAN BMP7_HUMAN]] Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis. [[http://www.uniprot.org/uniprot/NOGG_HUMAN NOGG_HUMAN]] Essential for cartilage morphogenesis and joint formation. Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite.<ref>PMID:12478285</ref>

[[Category: Human]]

[[Category: Affolter, M]]

[[Category: Choe, S]]

[[Category: Economides, A N]]

[[Category: Greenwald, J]]

[[Category: Groppe, J]]

[[Category: Izpisua-Belmonte, J C]]

[[Category: Kwiatkowski, W]]

[[Category: Rodriguez-Leon, J]]

[[Category: Vale, W W]]

[[Category: Wiater, E]]

[[Category: Noggin]]