1wlx: Difference between revisions
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{{STRUCTURE_1wlx| PDB=1wlx | SCENE= }} | {{STRUCTURE_1wlx| PDB=1wlx | SCENE= }} | ||
===Solution structure of the third spectrin repeat of alpha-actinin-4=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ACTN4_HUMAN ACTN4_HUMAN]] Defects in ACTN4 are the cause of focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:[http://omim.org/entry/603278 603278]]. A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and edema. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.<ref>PMID:10700177</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ACTN4_HUMAN ACTN4_HUMAN]] F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. | |||
==About this Structure== | ==About this Structure== | ||
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==See Also== | ==See Also== | ||
*[[Actinin|Actinin]] | *[[Actinin|Actinin]] | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Booker, G W.]] | [[Category: Booker, G W.]] | ||
