1wer: Difference between revisions
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{{STRUCTURE_1wer| PDB=1wer | SCENE= }} | {{STRUCTURE_1wer| PDB=1wer | SCENE= }} | ||
===RAS-GTPASE-ACTIVATING DOMAIN OF HUMAN P120GAP=== | |||
{{ABSTRACT_PUBMED_8955277}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/RASA1_HUMAN RASA1_HUMAN]] Note=Mutations in the SH2 domain of RASA seem to be oncogenic and cause basal cell carcinomas. Defects in RASA1 are the cause of capillary malformation-arteriovenous malformation (CMAVM) [MIM:[http://omim.org/entry/608354 608354]]. CMAVM is a disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome.<ref>PMID:14639529</ref> Defects in RASA1 are a cause of Parkes Weber syndrome (PKWS) [MIM:[http://omim.org/entry/608355 608355]]. PKWS is a disorder characterized by a cutaneous flush with underlying multiple micro-arteriovenous fistulas, in association with soft tissue and skeletal hypertrophy of the affected limb. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/RASA1_HUMAN RASA1_HUMAN]] Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1.<ref>PMID:8360177</ref><ref>PMID:11389730</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:008955277</ref><ref group="xtra">PMID:010899318</ref><references group="xtra"/> | <ref group="xtra">PMID:008955277</ref><ref group="xtra">PMID:010899318</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Ahmadian, M R.]] | [[Category: Ahmadian, M R.]] | ||
