Gene: FKRP (fukutin related protein) Homo sapiens
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Symbol: FKRP
Name: fukutin related protein
Description: 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, cognitive disability, 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ12576; fukutin-related protein; LGMD2I; LGMDR9; MDC1C; MDDGA5; MDDGB5; MDDGC5; MGC2991; ribitol-5-phosphate transferase
Orthologs:
Mus musculus (house mouse) : Fkrp (fukutin related protein)  MGI  Alliance
Rattus norvegicus (Norway rat) : Fkrp (fukutin related protein)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Fkrp (fukutin related protein)
Pan paniscus (bonobo/pygmy chimpanzee) : FKRP (fukutin related protein)
Canis lupus familiaris (dog) : FKRP (fukutin related protein)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Fkrp (fukutin related protein)
Sus scrofa (pig) : FKRP (fukutin related protein)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381946,746,015 - 46,758,575 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371947,249,303 - 47,261,832 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361951,941,143 - 51,953,582 (+)NCBINCBI36hg18NCBI36
Build 341951,941,154 - 51,953,581NCBI
Celera1944,052,833 - 44,066,103 (+)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1943,674,242 - 43,686,703 (+)NCBIHuRef
CHM1_11947,251,200 - 47,263,719 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on FKRP
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1314133
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-06-04
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.