2edp

From Proteopedia

proteopedia linkproteopedia link

Template:STRUCTURE 2edp

Contents 1 Solution structure of the PDZ domain from human Shroom family member 4 2 Disease 3 Function 4 About this Structure 5 Reference

Solution structure of the PDZ domain from human Shroom family member 4

Disease

[SHRM4_HUMAN] Defects in SHROOM4 are the cause of mental retardation syndromic X-linked Stocco dos Santos type (SDSX) [MIM:300434]. A syndrome characterized by severe mental retardation with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis.^[1] Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;8)(p11.22;p23.3) with FBXO25. Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;19).

Function

[SHRM4_HUMAN] Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity).^[2]

About this Structure

2edp is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

1. ↑ Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gecz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A. Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet. 2006 Jan;118(5):578-90. Epub 2005 Oct 26. PMID:16249884 doi:10.1007/s00439-005-0072-2
2. ↑ Dietz ML, Bernaciak TM, Vendetti F, Kielec JM, Hildebrand JD. Differential actin-dependent localization modulates the evolutionarily conserved activity of Shroom family proteins. J Biol Chem. 2006 Jul 21;281(29):20542-54. Epub 2006 May 8. PMID:16684770 doi:10.1074/jbc.M512463200