| Primary Identifier | IPR009644 | Type | Family |
| Short Name | FKTN-related |
| description | Ribitol-5-phosphate transferase FKTN is a eukaryotic protein necessary for the maintenance of muscle integrity, cortical histiogenesis, and normal ocular development. Mutations in the fukutin gene have been shown to result in Fukuyama-type congenital muscular dystrophy characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan []. FKTN participates in glycosylation of alpha-dystroglycan/DAG1 [, , ].This entry also include the Protein MNN4 from budding yeast. It may function as a positive regulator for mannosylphosphate transferase [, ]. |
