Viral Details

Viral Backbone

Human Adenovirus Type5 (dE1/E3)

Promoter

CMV

Reporter

none, optional GFP, CFP, YFP, RFP or mCherry

Storage Buffer

DMEM, 2% BSA, 2.5% Glycerol

Gene Details

Species

Human

Gene Symbol

FKRP

Gene Name

fukutin related protein

Gene ID

79147

Gene Synonyms

LGMD2I; MDC1C; MDDGA5; MDDGB5; MDDGC5

ORF Size

1488 bp

RefSeq#

BC002612

Gene Description

FKRP 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.

UniGene ID

Hs.515493

HGNC ID

HGNC:17997