Symbol: Name: ID: |
FKRP fukutin related protein GFS:6891 |
Gene name: | FKRP |
Chromosome: | 19q13.3 |
Previous Symbols: | |
Previous Names: | |
Aliases: | LGMD2I, MDC1C |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2447586 | Rat Genome Database ID: | RGD:1305852 |
HGNC ID: | HGNC:17997 | RefSeq IDs: | NM_001039885 |
Entrez Gene ID: | 79147 | Ensembl Gene ID: | ENSG00000181027 |
VEGA IDs: | UniProt ID: | Q9H9S5 | |
UCSC ID: | uc002pfp.2 | OMIM ID: | 606596 |
Pubmed: | PMID11592034 PMID 11741828 | ||
CCDS IDs: | CCDSCCDS12691.1 |
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].
Function: Could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1).
Products for FKRP gene
Catalog | Product Name | Application | Company |
GFS:E06891 | fukutin related protein; ELISA kit | ELISA | n/a |
GFS:A06891 | fukutin related protein; Anti | ANTIBODIES | n/a |
GFS:P06891 | fukutin related protein; Protien | Protien | n/a |