3efo: Difference between revisions
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==Disease== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/SC23A_HUMAN SC23A_HUMAN]] Defects in SEC23A are the cause of craniolenticulosutural dysplasia (CLSD) [MIM:[http://omim.org/entry/607812 607812]]; also known as cranio-lenticulo-sutural dysplasia. CLSD is an autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.<ref>PMID:16980979</ref> | [[http://www.uniprot.org/uniprot/SC23A_HUMAN SC23A_HUMAN]] Defects in SEC23A are the cause of craniolenticulosutural dysplasia (CLSD) [MIM:[http://omim.org/entry/607812 607812]]; also known as cranio-lenticulo-sutural dysplasia. CLSD is an autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.<ref>PMID:16980979</ref> | ||
==Function== | ==Function== | ||
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==About this Structure== | ==About this Structure== | ||
[[3efo]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/ | [[3efo]] is a 3 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=3EFO OCA]. | ||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID:018843296</ref><references group="xtra"/><references/> | <ref group="xtra">PMID:018843296</ref><references group="xtra"/><references/> | ||
[[Category: | [[Category: Human]] | ||
[[Category: Goldberg, J.]] | [[Category: Goldberg, J.]] | ||
[[Category: Mancias, J D.]] | [[Category: Mancias, J D.]] | ||
