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FKRP fukutin related protein [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_001039885 Homo sapiens fukutin related protein (FKRP), transcript variant 2, mRNA. ORF Sequence $431.52
Peptide Services
Antibody Services
Protein Services
NM_024301 Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA. ORF Sequence $431.52
Peptide Services
Antibody Services
Protein Services


Gene Symbol FKRP
Entrez Gene ID 79147
Full Name fukutin related protein
Synonyms FLJ12576, LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5, MGC2991
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

19

19q13.32

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].
Disorder

MIM: 606596

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

mRNA Protein Product Sequence Price Select
NM_001039885, 209574324 NP_001034974, 89941475 fukutin-related protein Full Length $1215.90
ORF Sequence $431.52
NM_024301, 209574323 NP_077277, 13236528 fukutin-related protein Full Length $1197.70
ORF Sequence $431.52
Homo sapiens (human)FKRPNP_001034974.1
Pan troglodytes (chimpanzee)FKRPXP_001168126.1
Macaca mulatta (Rhesus monkey)FKRPXP_001112501.1
Canis lupus familiaris (dog)FKRPXP_541541.1
Bos taurus (cattle)FKRPNP_001093184.1
Mus musculus (house mouse)FkrpNP_775606.1
Rattus norvegicus (Norway rat)FkrpNP_001020849.1
Danio rerio (zebrafish)fkrpNP_001082959.1
Danio rerio (zebrafish)LOC100535796XP_003200063.1
Drosophila melanogaster (fruit fly)CG15651NP_611531.2
GeneCards FKRP
UniProt Q9H9S5
MIM 606596
Ensembl ENSG00000181027
HGNC 17997
HPRD 05962

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
fukutin-related protein
Names
fukutin-related protein

Interactant

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