Background |
The spectrin gene family encodes a diverse group of cytoskeletal proteins that include spectrins, dystrophins and alpha-actinins. There are four tissue-specific alpha-actinins, namely alpha-actinin-1, alpha-actinin-2, alpha-actinin-3 and alpha-actinin-4, which are localized to muscle and non-muscle cells, including skeletal, cardiac and smooth muscle cells, as well as within the cytoskeleton. Each alpha-actinin protein contains one Actin-binding domain, two calponin-homology domains, two EF-hand domains and four spectrin repeats, through which they function as bundling proteins that can cross-link F-Actin, thus anchoring Actin to a variety of intracellular structures. Defects in the gene encoding alpha-actinin-4 are the cause of focal segmental glomerulosclerosis 1 (FSGS1), a common renal lesion characterized by decreasing kidney function and, ultimately, renal failure. |
Alternative Name |
pan-alpha-Actinin, alpha-Actinin-pan, Actinin-alpha, Actinin alpha, alpha Actinin, alpha-Actinin, Alpha-actinin-4, F-actin cross-linking protein, Non-muscle alpha-actinin 4, ACTN4, alpha-Actinin4, Actinin alpha4, Actininalpha4, alphaActinin-4, Actinin-alpha4, alpha-actinin-4, Alpha-actinin-1, Alpha-actinin cytoskeletal isoform, Non-muscle alpha-actinin-1, ACTN1, alpha-Actinin1, Actinin alpha1, Actininalpha1, alphaActinin-1, Actinin-alpha1, alpha-actinin-1, Alpha-actinin-2, Alpha-actinin skeletal muscle isoform 2, ACTN2, alpha-Actinin2, Actinin alpha2, Actininalpha2, alphaActinin-2, Alpha-actinin-3, Alpha-actinin skeletal muscle isoform 3, ACTN3, alpha-Actinin3, Actinin alpha3, Actininalpha3, alphaActinin-3, Actinin-alpha3, alpha-actinin-2, alpha-actinin-3 |