FKRP
fukutin related protein
Sinónimos:
LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5
Especie:
Human FKRP (79147), Mouse Fkrp (243853), Rat Fkrp (308390), dog FKRP (484426), domestic cat FKRP (101099604), Zebrafish fkrp (571426), chicken FKRP (431512), domestic guinea pig Fkrp (100717803), naked mole-rat Fkrp (101720645), cow FKRP (539701) ...Más
ID UniProtKB:
ID del gen:
- Human(79147) Summary: This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]
- Mouse(243853) fukutin related protein
- Rat(308390) fukutin related protein
- dog(484426) fukutin related protein
- domestic cat(101099604) fukutin related protein
- Zebrafish(571426) fukutin related protein
- chicken(431512) fukutin related protein
- domestic guinea pig(100717803) fukutin related protein
- naked mole-rat(101720645) fukutin related protein
- cow(539701) fukutin related protein
- sheep(101117098) fukutin related protein
- Domestic Rabbit(100356414) fukutin related protein
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