The gene encodes a functional protein of glomerular podocytes. If mutated familial glomerulosclerosis 1 occurs.
The gene ACTN4 that is located on chomosom 19 (19q13) spans about 84.8kb. The 21 exons are all coding.
Kaplan JM et al. (2000) Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
Patrie KM et al. (2002) Interaction of two actin-binding proteins, synaptopodin and alpha-actinin-4, with the tight junction protein MAGI-1.
Kos CH et al. (2003) Mice deficient in alpha-actinin-4 have severe glomerular disease.
Update: Sept. 26, 2018