2r0o

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Template:STRUCTURE 2r0o

Contents 1 Crystal structure of the actin-binding domain of human alpha-actinin-4 mutant(K255E) 2 Disease 3 Function 4 About this Structure 5 See Also 6 Reference

Crystal structure of the actin-binding domain of human alpha-actinin-4 mutant(K255E)

Template:ABSTRACT PUBMED 18164029

Disease

[ACTN4_HUMAN] Defects in ACTN4 are the cause of focal segmental glomerulosclerosis type 1 (FSGS1) [MIM: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.^[1]

Function

[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

2r0o is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

• Actinin

Reference

• Lee SH, Weins A, Hayes DB, Pollak MR, Dominguez R. Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. J Mol Biol. 2008 Feb 15;376(2):317-24. Epub 2007 Dec 4. PMID:18164029 doi:10.1016/j.jmb.2007.11.084

1. ↑ Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodriguez-Perez JC, Allen PG, Beggs AH, Pollak MR. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet. 2000 Mar;24(3):251-6. PMID:10700177 doi:10.1038/73456