Group:MUZIC:XIN
From Proteopedia
Xin actin-binding repeat-containing protein 1 (Alternative name: Cardiomyopathy-associated protein 1) is coded by the gene (Synonyms:CMYA1, XIN) and has an actin-binding domain (ABD). It crosslinks actin filaments and participates in anchoring of membrane proteins.
Sequence Annotation
Function
Interactions with other proteins
Xin directly binds the EVH1 domain proteins Mena and VASP <ref name="pmid16631741">.
Clinical significance
References
- ↑ Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. Hum Mol Genet. 2009 Dec 15;18(24):4791-800. Epub 2009 Sep 22. PMID:19773341 doi:10.1093/hmg/ddp442