Family

Fukutin-related (IPR009644)

Short name: Fukutin-related

Family relationships

None.

Description

Fukutin 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 [PMID: 12783852]. Fukutin may be a glycosyltransferase which participates in glycosylation of alpha-dystroglycan/DAG1 [PMID: 11445638].

This entry also include the Mnn4 protein from budding yeast. It may function as a positive regulator for mannosylphosphate transferase [PMID: 9023541, PMID: 9459307].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER