FKRP Gene
protein-coding GIFtS: 49
GCID: GC19P047249
|
|
fukutin related protein
| |
Aliases
for FKRP gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Fukutin Related Protein1 2 | | MDDGB52 5 | | LGMD2I1 2 5 | | MDDGC52 5 | | MDC1C1 2 5 | | Fukutin-Related Protein2 | | MDDGA52 5 | | EC 2.-.-.-3 |
Export aliases for FKRP gene to outside databasesPrevious GC identifers: GC19P047893 GC19P047640 GC19P051925 GC19P051941 GC19P043674 |
Summaries
for FKRP gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for FKRP:
This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslationalmodification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mentalretardation, 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)
UniProtKB/Swiss-Prot: FKRP_HUMAN, Q9H9S5Function: Could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1)
|
Genomic Views
for FKRP gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011109.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the FKRP gene promoter:
HOXA9B E2F-4 E2F-3a E2F-5 E2F-2 Roaz E2F E2F-1 En-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for FKRP
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FKRP |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.32 Ensembl cytogenetic band: 19q13.32 HGNC cytogenetic band: 19q13.32FKRP Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P047249: view genomic region
(about GC identifiers)
Start:
|
47,249,303 bp from pter |
End:
|
47,261,832 bp from pter |
Size:
|
12,530 bases |
Orientation:
|
plus strand |
|
Proteins
for FKRP gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: FKRP_HUMAN, Q9H9S5 (See
protein sequence)Recommended Name: Fukutin-related protein Size: 495 amino acids; 54568 Da
Subunit: May interact with the dystrophin-glycoprotein complex (DGC) (By similarity). Homodimer; disulfide-linked.Exists also as large multimeric protein complexes
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein. Secreted. Cell membrane,sarcolemma (By similarity). Rough endoplasmic reticulum. Note=According to some studies the N-terminal hydrophobicdomain is cleaved after translocation to the Golgi apparatus and the protein is secreted. Localization at the cellmembrane may require the presence of dystroglycan. At the Golgi apparatus localizes to the middle-to-trans-cisternae,as assessed by MG160 colocalization. Detected in rough endoplasmic reticulum in myocytes. In general, mutantsassociated with severe clinical phenotypes are retained within the endoplasmic reticulum
Secondary accessions: A8K5G7Explore the universe of human proteins at neXtProt for FKRP: NX_Q9H9S5
Post-translational modifications:
N-glycosylated1
View neXtProt modification sites for NX_Q9H9S5
FKRP Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001034974.1 NP_077277.1
ENSEMBL proteins: ENSP00000375776 ENSP00000326570
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
FKRP for ontologies About GeneDecksing
FKRP Antibody Products:
Assay Products for FKRP: |
Protein
Domains /
Families
for FKRP gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
FKRP for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9H9S5ProtoNet protein and cluster: Q9H9S5 UniProtKB/Swiss-Prot: FKRP_HUMAN, Q9H9S5Similarity: Belongs to the LicD transferase family |
Function
for FKRP gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: FKRP_HUMAN, Q9H9S5Function: Could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1)Enzyme Number (IUBMB): EC 2.-.-.-1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FKRP (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FKRP (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): FKRP (NM_024301) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FKRP | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FKRP |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FKRP |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016740 | transferase activity |
IEA | -- |
FKRP for ontologies About GeneDecksing
Animal Models:
11 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Fkrp):
FKRP for phenotypes About GeneDecksing
|
Pathways & Interactions
for FKRP gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FKRP
STRING Interaction
Network Preview (showing 5 interactants - click image to see 19)
5/19 Interacting proteins for FKRP (ENSP000003265704) via UniProtKB, MINT, STRING, and/or I2D (see all 19)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0009101 | glycoprotein biosynthetic process |
IEA | -- | | GO:0016485 | protein processing |
IEA | -- |
FKRP for ontologies About GeneDecksing
|
Drugs & Compounds
for FKRP gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
FKRP for compounds About GeneDecksing
 Browse Tocris compounds for FKRP
1 Novoseek chemical compound relationship for FKRP gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| creatinine |
19.5 |
1 |
11592034 (1) |
Search CenterWatch for drugs/clinical trials and news about FKRP
|
Transcripts
for FKRP gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for FKRP gene (2 alternative transcripts): NM_001039885.2 NM_024301.4 Unigene Cluster for FKRP: Fukutin related protein Hs.515493 [show with all ESTs]Unigene Representative Sequence: NM_0010398852 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000391909(uc002pfp.2) ENST00000318584(uc002pfn.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FKRP (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FKRP (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): FKRP (NM_024301) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FKRP | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FKRP |
Additional cDNA sequence: AJ314847.1 AK022638.1 AK095497.1 AK291282.1 BC002612.2 12 DOTS entries: DT.310587 DT.99932537 DT.91676889 DT.100033621 DT.121479909 DT.121479810 DT.99960293 DT.121480194 DT.91676879 DT.121480074 DT.99936910 DT.121479918 24/76 AceView cDNA sequences (see all 76): AL711181 AI342833 AU125096 CA424473 D45534 AJ314847 BQ022418 BQ925163 BC002612 AK095497 BM468881 AI261680 AK022638 BU623211 BQ026194 AW291054 AI659786 AW182917 AI399710 BQ636316 NM_024301 CA774476 AA679692 CK902852
GeneLoc Exon Structure
5/17 Alternative Splicing Database (ASD) splice patterns (SP) for FKRP (see all 17) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c | · | 10d | · | 10e | · | 10f | · | 10g | · | 10h | · | 10i | · | 10j | · | 10k | · | 10l | · | 10m |
|---|
|
| SP1: | | | - | | | | | | - | | | | | | | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | - | | - | | - | | - | | | | | | | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | - | | | | - | | - | | | | | | | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | - | | | | | | - | | | | | | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | - | | | | | | - | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for FKRP
|
Expression
for FKRP gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| FKRP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TATTCCCAAT
About this image
See FKRP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FKRP
SOURCE GeneReport for Unigene cluster: Hs.515493
UniProtKB/Swiss-Prot: FKRP_HUMAN, Q9H9S5Tissue specificity: Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain,lung, liver kidney and pancreas
SABiosciences Custom PCR Arrays for FKRP
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FKRP
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FKRP | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FKRP | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FKRP | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FKRP |
Orthologs
for FKRP gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for FKRP gene from 6/15 species (see all 15) About this table
ENSEMBL Gene Tree for FKRP (if available)
TreeFam Gene Tree for FKRP (if available) |
Paralogs
for FKRP gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for FKRP gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for FKRP (47249303 - 47261832 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for FKRP
1 CNV: 5104
Human Gene Mutation Database (HGMD): FKRP
Locus Specific Mutation Databases (LSDB): FKRP
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FKRP |
|
Disorders
/ Diseases
for FKRP gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
FKRP for disorders About GeneDecksing
OMIM gene information: 606596
OMIM disorders: 613153 606612 607155
UniProtKB/Swiss-Prot: FKRP_HUMAN, Q9H9S5
Defects in FKRP are the cause of muscular dystrophy-dystroglycanopathy congenital with brain and eye anomaliestype A5 (MDDGA5) [MIM:613153]. MDDGA5 is an autosomal recessive disorder characterized by congenital musculardystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mentalretardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburgsyndrome and the slightly less severe muscle-eye-brain disease Defects in FKRP are the cause of muscular dystrophy-dystroglycanopathy congenital with or without mentalretardation type B5 (MDDGB5) [MIM:606612]. MDDGB5 is a congenital muscular dystrophy characterized by a severephenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, a secondarydeficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of MDDGB5patients have brain involvements Defects in FKRP are the cause of muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5)[MIM:607155]; also known as limb-girdle muscular dystrophy type 2I. MDDGC5 is an autosomal recessive disorder with ageof onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscleweakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction ofalpha-dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients
20/22  diseases for FKRP (see all 22): About MalaCardsmuscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 muscular dystrophy muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5
muscular dystrophy-dystroglycanopathy congenital muscular dystrophy limb-girdle muscular dystrophy type 2i limb-girdle muscular dystrophy
muscle-eye-brain disease walker-warburg syndrome cleft lip +/- cleft palate becker muscular dystrophy
cleft lip cleft palate dilated cardiomyopathy intellectual disability
brain disease neuromuscular disease respiratory failure cardiomyopathy
4 diseases from the University of Copenhagen DISEASES database for FKRP:Myopathy Neuropathy Lissencephaly Intellectual disability 10/25 Novoseek disease relationships for FKRP gene (see all 25) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| lgmd2i |
99.4 |
72 |
16288869 (4), 14523375 (3), 18645206 (3), 15580560 (3) (see all 33) |
| mdc1c |
98.9 |
36 |
16288869 (4), 11741828 (3), 12471058 (3), 14523375 (2) (see all 14) |
| walker-warburg syndrome |
95.6 |
9 |
12966029 (1), 17554798 (1), 15121789 (1), 15773323 (1) (see all 6) |
| muscle-eye-brain disease |
94.3 |
6 |
12966029 (1), 17554798 (1), 15121789 (1), 19900540 (1) |
| muscular dystrophy limb-girdle |
93.5 |
21 |
12678490 (1), 14967765 (1), 14652796 (1), 15726252 (1) (see all 15) |
| muscular dystrophies |
93.3 |
79 |
16476814 (4), 19955119 (4), 14652796 (3), 19155270 (3) (see all 28) |
| limb girdle |
91.5 |
15 |
19155270 (1), 11741828 (1), 16055117 (1), 12654965 (1) (see all 8) |
| lgmd2h |
90 |
4 |
14959561 (1), 15316618 (1) |
| lgmd2f |
88.6 |
4 |
14959561 (1), 15316618 (1) |
| lgmd1c |
87.9 |
3 |
15316618 (1), 14647208 (1) |
Genetic Association Database (GAD): FKRP
Human Genome Epidemiology (HuGE) Navigator: FKRP (4 documents)
Export disorders for FKRP gene to outside databases
|
Publications
for FKRP gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for FKRP gene, integrated from 9 sources (see all 101):
(articles sorted by number of sources associating them with FKRP) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. (PubMed id 14652796)1, 2, 4, 9 Louhichi N....Fakhfakh F. (2004)
- Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. (PubMed id 11592034)1, 2, 3, 9 Brockington M.... Muntoni F. (2001)
- Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. (PubMed id 11741828)1, 2, 3, 9 Brockington M....Muntoni F. (2001)
- Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. (PubMed id 14523375)1, 2, 9 Harel T.... Birk O.S. (2004)
- FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. (PubMed id 12654965)1, 2, 9 Topaloglu H.... Muntoni F. (2003)
- Subcellular localization of fukutin and fukutin-related protein in muscle cells. (PubMed id 15213246)1, 2, 9 Matsumoto H....Nishino I. (2004)
- Mutations alter secretion of fukutin-related protein. (PubMed id 19900540)1, 2, 9 Lu P.J....Lu Q.L. (2010)
- A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. (PubMed id 17336067)1, 2, 9 MacLeod H....McNally E.M. (2007)
- Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (PubMed id 15121789)1, 2, 9 Beltran-Valero de Bernabe D....Muntoni F. (2004)
- Phenotypic spectrum associated with mutations in the fukutin-related protein gene. (PubMed id 12666124)1, 2, 9 Mercuri E....Muntoni F. (2003)
|
External Searches for FKRP gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing FKRP gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing FKRP gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FKRP gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for FKRP | Pharmacogenomics, SNPs, Pathways | | LEIDEN Muscular Dystrophy page for FKRP | Scientfic Information about Duchenne and Duchenne-like muscular dystrophies. | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FKRP | | GGDB | http://riodb.ibase.aist.go.jp/rcmg/ggdb/ |
|
| | |
About This Section
| Patent Information for FKRP gene:
Search GeneIP for patents involving FKRP
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for FKRP gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for FKRP | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FKRP | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FKRP | | | OriGene Protein Over-expression Lysate for FKRP | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for FKRP | | OriGene 3'-UTR Clone for FKRP | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FKRP | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FKRP | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for FKRP | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for FKRP | | OriGene Custom Protein Services for FKRP | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FKRP | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FKRP | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FKRP | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FKRP | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FKRP | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FKRP |
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| | | | Search Tocris compounds for FKRP |
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 | | | FKRP Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FKRP |
|  |  |  | | | | Search ThermoFisher Antibodies for FKRP |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FKRP |
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