2218246179ENSG00000106692ENSMUSG00000028414O75072Q8R507NM_001351498NM_001351499NM_001351500NM_001351501NM_001351502NM_139309NM_001363126NM_001363127NM_001363128NP_001338427NP_001338428NP_001338429NP_001338430NP_001338431NP_647470NP_001350055NP_001350056NP_001350057Fukutin is a eukaryotic protein necessary for the maintenance of muscle integrity, cortical histogenesis, and normal ocular development.
Mutations in the fukutin gene have been shown to result in Fukuyama congenital muscular dystrophy (FCMD) characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan.
[6][7][8] Human fukutin exhibits a length of 461 amino acids and a predicted molecular mass of 53.7 kDa.
Although its function is mostly unknown, fukutin is a putative transmembrane protein that is ubiquitously expressed, although at higher levels in skeletal muscle, heart and brain.
[7][11] This article incorporates text from the United States National Library of Medicine, which is in the public domain.