Search for a gene
FKTN - fukutin
- Synonym(s) : LGMD2M
- Previous symbols and names : FCMD, Fukuyama type congenital muscular dystrophy (fukutin)
- Type : gene with protein product
- Chromosomal location : 9q31.2
- OMIM: 607440
- HGNC: 3622
- UniProtKB: O75072
- Genatlas: FKTN
- Ensembl: ENSG00000106692
- IUPHAR-DB: -
- Reactome: -
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive limb-girdle muscular dystrophy type 2M
- Disease-causing germline mutation(s) in Congenital muscular dystrophy, Fukuyama type
- Disease-causing germline mutation(s) in Congenital muscular dystrophy without intellectual disability
- Disease-causing germline mutation(s) in Familial isolated dilated cardiomyopathy
- Disease-causing germline mutation(s) in Muscle-eye-brain disease
- Disease-causing germline mutation(s) (loss of function) in Walker-Warburg syndrome
: AssessedAdditional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.