Structural highlights
Disease
K2C8_HUMAN The disease is caused by variants affecting the gene represented in this entry.
Function
K2C8_HUMAN Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle.[1]
References
- ↑ Stone MR, O'Neill A, Catino D, Bloch RJ. Specific interaction of the actin-binding domain of dystrophin with intermediate filaments containing keratin 19. Mol Biol Cell. 2005 Sep;16(9):4280-93. Epub 2005 Jul 6. PMID:16000376 doi:http://dx.doi.org/E05-02-0112
