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Aliases for FKRP Gene

Aliases for FKRP Gene

  • Fukutin Related Protein 2 3 5
  • Fukutin-Related Protein 3
  • EC 2.-.-.- 4
  • LGMD2I 3
  • MDDGA5 3
  • MDDGB5 3
  • MDDGC5 3
  • MDC1C 3

External Ids for FKRP Gene

Previous GeneCards Identifiers for FKRP Gene

  • GC19P047893
  • GC19P047640
  • GC19P051925
  • GC19P051941
  • GC19P047249
  • GC19P043674

Summaries for FKRP Gene

Entrez Gene Summary for FKRP Gene

  • 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]

GeneCards Summary for FKRP Gene

FKRP (Fukutin Related Protein) is a Protein Coding gene. Diseases associated with FKRP include Muscular Dystrophy-Dystroglycanopathy , Type C, 5 and Muscular Dystrophy-Dystroglycanopathy , Type B, 5. Among its related pathways are Mannose type O-glycan biosynthesis and Metabolism. GO annotations related to this gene include transferase activity.

UniProtKB/Swiss-Prot for FKRP Gene

  • Transferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.

Additional gene information for FKRP Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FKRP Gene

Genomics for FKRP Gene

Regulatory Elements for FKRP Gene

Enhancers for FKRP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H046713 1.6 FANTOM5 ENCODE dbSUPER 48.7 -27.4 -27367 8 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF121 GTF3C2 GLIS2 ZNF143 FKRP STRN4 PRKD2 ZC3H4 FBXO46 CCDC61 ENSG00000269148 BICRA CCDC9 GC19M046720
GH19H046696 1.2 Ensembl ENCODE 41.1 -46.9 -46949 1 HDAC1 HDGF PKNOX1 ATF1 ZBTB40 EGR1 SCRT2 ATF7 CREM EGR2 FKRP STRN4 AP2S1 PRKD2 RN7SL364P MIR320E
GH19H046819 1.2 Ensembl ENCODE 21.6 +78.2 78183 5 HDGF PKNOX1 ATF1 ARNT FEZF1 GLIS2 ZNF143 FOS ATF7 RUNX3 FKRP SLC1A5 STRN4 AP2S1 PRKD2 MIR320E TMEM160 ENSG00000269014 HNRNPMP2
GH19H046983 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +240.5 240500 2 PKNOX1 FOXA2 ATF1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 SP5 ARHGAP35 TMEM160 AP2S1 FKRP STRN4 ZC3H4 C5AR1 DHX34 CCDC9 PIR46184
GH19H046813 1.1 Ensembl ENCODE 16.3 +69.5 69472 1 ELF3 FOXA2 NFIB KLF17 NFXL1 RAD21 EGR1 ZNF366 EGR2 SP3 FKRP BICRA ENSG00000268746 SLC1A5 NOP53 ZC3H4 STRN4 NOP53-AS1 ENSG00000268810 EHD2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FKRP on UCSC Golden Path with GeneCards custom track

Promoters for FKRP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000110420 1394 1601 TBP RB1 ARNT ZSCAN4 ZNF76 SIN3A BMI1 ZEB1 YY1 ZNF766

Genomic Location for FKRP Gene

Chromosome:
19
Start:
46,744,606 bp from pter
End:
46,776,988 bp from pter
Size:
32,383 bases
Orientation:
Plus strand

Genomic View for FKRP Gene

Genes around FKRP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FKRP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FKRP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FKRP Gene

Proteins for FKRP Gene

  • Protein details for FKRP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9S5-FKRP_HUMAN
    Recommended name:
    Fukutin-related protein
    Protein Accession:
    Q9H9S5
    Secondary Accessions:
    • A8K5G7

    Protein attributes for FKRP Gene

    Size:
    495 amino acids
    Molecular mass:
    54568 Da
    Quaternary structure:
    • May interact with the dystrophin-glycoprotein complex (DGC) (By similarity). Homodimer; disulfide-linked. Exists also as large multimeric protein complexes.

neXtProt entry for FKRP Gene

Post-translational modifications for FKRP Gene

No data available for DME Specific Peptides for FKRP Gene

Domains & Families for FKRP Gene

Gene Families for FKRP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FKRP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FKRP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H9S5

UniProtKB/Swiss-Prot:

FKRP_HUMAN :
  • Belongs to the LicD transferase family.
Family:
  • Belongs to the LicD transferase family.
genes like me logo Genes that share domains with FKRP: view

Function for FKRP Gene

Molecular function for FKRP Gene

UniProtKB/Swiss-Prot Function:
Transferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.

Enzyme Numbers (IUBMB) for FKRP Gene

Phenotypes From GWAS Catalog for FKRP Gene

Gene Ontology (GO) - Molecular Function for FKRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with FKRP: view
genes like me logo Genes that share phenotypes with FKRP: view

Human Phenotype Ontology for FKRP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FKRP Gene

MGI Knock Outs for FKRP:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for FKRP Gene

Localization for FKRP Gene

Subcellular locations from UniProtKB/Swiss-Prot for FKRP Gene

Golgi apparatus membrane; Single-pass type II membrane protein. Secreted. Cell membrane, sarcolemma. Rough endoplasmic reticulum. Note=According to some studies the N-terminal hydrophobic domain is cleaved after translocation to the Golgi apparatus and the protein is secreted. Localization at the cell membrane 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, mutants associated with severe clinical phenotypes are retained within the endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FKRP gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 4
nucleus 4
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FKRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 19900540
GO:0005634 nucleus IDA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with FKRP: view

Pathways & Interactions for FKRP Gene

genes like me logo Genes that share pathways with FKRP: view

Pathways by source for FKRP Gene

UniProtKB/Swiss-Prot Q9H9S5-FKRP_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for FKRP Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000326570%0d%0a9606.ENSP00000378965%0d%0a9606.ENSP00000341940%0d%0a9606.ENSP00000429276%0d%0a9606.ENSP00000338343%0d%0a9606.ENSP00000370839%0d%0a
Selected Interacting proteins: ENSP00000326570 Q9H9S5-FKRP_HUMAN for FKRP Gene via STRING IID

Gene Ontology (GO) - Biological Process for FKRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0009101 glycoprotein biosynthetic process IEA --
GO:0016485 protein processing IEA --
GO:0035269 protein O-linked mannosylation IMP 25279699
genes like me logo Genes that share ontologies with FKRP: view

No data available for SIGNOR curated interactions for FKRP Gene

Drugs & Compounds for FKRP Gene

(1) Drugs for FKRP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with FKRP: view

Transcripts for FKRP Gene

Unigene Clusters for FKRP Gene

Fukutin related protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FKRP Gene

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: - - -
SP6: - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - -
SP9: - - - - - - -
SP10: - - - - - - - - -
SP11: - - - - - - - -
SP12: - - - - - - - - -
SP13: - - - - - - - - -
SP14: - - - - - -
SP15: - - - - - - -
SP16: - - - - - - - - - -
SP17: - - - - - - - - - - -

Relevant External Links for FKRP Gene

GeneLoc Exon Structure for
FKRP
ECgene alternative splicing isoforms for
FKRP

Expression for FKRP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FKRP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FKRP Gene

This gene is overexpressed in Bone (47.7), Placenta (9.7), and Heart (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FKRP Gene



Protein tissue co-expression partners for FKRP Gene

NURSA nuclear receptor signaling pathways regulating expression of FKRP Gene:

FKRP

SOURCE GeneReport for Unigene cluster for FKRP Gene:

Hs.515493

mRNA Expression by UniProt/SwissProt for FKRP Gene:

Q9H9S5-FKRP_HUMAN
Tissue specificity: Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver kidney and pancreas.

Evidence on tissue expression from TISSUES for FKRP Gene

  • Nervous system(4.8)
  • Muscle(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FKRP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tongue
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with FKRP: view

Primer Products

No data available for mRNA differential expression in normal tissues for FKRP Gene

Orthologs for FKRP Gene

This gene was present in the common ancestor of animals.

Orthologs for FKRP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FKRP 34 33
  • 99.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FKRP 34 33
  • 91.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FKRP 34 33
  • 89.2 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fkrp 16 34 33
  • 87.02 (n)
rat
(Rattus norvegicus)
Mammalia Fkrp 33
  • 86 (n)
oppossum
(Monodelphis domestica)
Mammalia FKRP 34
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FKRP 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fkrp 33
  • 56.5 (n)
Str.19699 33
zebrafish
(Danio rerio)
Actinopterygii fkrp 34 34 33
  • 59.73 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG15651 33 34
  • 46.76 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008690 33
  • 30 (n)
Species where no ortholog for FKRP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FKRP Gene

ENSEMBL:
Gene Tree for FKRP (if available)
TreeFam:
Gene Tree for FKRP (if available)

Paralogs for FKRP Gene

No data available for Paralogs for FKRP Gene

Variants for FKRP Gene

Sequence variations from dbSNP and Humsavar for FKRP Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs104894679 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612] 46,756,376(+) CCTCT(A/G)CGAGG reference, missense
rs104894681 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612] 46,756,793(+) GCAGC(C/T)GCTGG reference, missense
rs104894683 other, Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] 46,755,685(+) AGCCC(A/G)TGGTG reference, missense
rs104894684 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5) [MIM:613153] 46,756,403(+) CTGCT(A/G)CCTGC reference, missense
rs104894690 Pathogenic, Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] 46,755,850(+) GGGCG(C/T)GGGCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FKRP Gene

Variant ID Type Subtype PubMed ID
dgv3608n100 CNV gain 25217958
esv1341540 CNV insertion 17803354
nsv833850 CNV loss 17160897

Variation tolerance for FKRP Gene

Gene Damage Index Score: 2.58; 44.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FKRP Gene

Human Gene Mutation Database (HGMD)
FKRP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FKRP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FKRP Gene

Disorders for FKRP Gene

MalaCards: The human disease database

(38) MalaCards diseases for FKRP Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type c, 5
  • limb-girdle muscular dystrophy type 2i
muscular dystrophy-dystroglycanopathy , type b, 5
  • muscular dystrophy-dystroglycanopathy type b5
muscular dystrophy-dystroglycanopathy , type a, 5
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a5
walker-warburg syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
muscular dystrophy-dystroglycanopathy
  • cmd due to dystroglycanopathy
- elite association - COSMIC cancer census association via MalaCards
Search FKRP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FKRP_HUMAN
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5) [MIM:613153]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:15121789}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]: A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements. {ECO:0000269 PubMed:11592034, ECO:0000269 PubMed:12654965, ECO:0000269 PubMed:12666124, ECO:0000269 PubMed:14652796, ECO:0000269 PubMed:17336067}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]: An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha-dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients. {ECO:0000269 PubMed:11741828, ECO:0000269 PubMed:12666124, ECO:0000269 PubMed:14523375, ECO:0000269 PubMed:14647208, ECO:0000269 PubMed:23800702}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FKRP

Genetic Association Database (GAD)
FKRP
Human Genome Epidemiology (HuGE) Navigator
FKRP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FKRP
genes like me logo Genes that share disorders with FKRP: view

No data available for Genatlas for FKRP Gene

Publications for FKRP Gene

  1. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. (PMID: 14652796) Louhichi N … Fakhfakh F (Neurogenetics 2004) 3 4 22 45 60
  2. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. (PMID: 11741828) Brockington M … Muntoni F (Human molecular genetics 2001) 2 3 4 22 60
  3. 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. (PMID: 11592034) Brockington M … Muntoni F (American journal of human genetics 2001) 2 3 4 22 60
  4. Mutations alter secretion of fukutin-related protein. (PMID: 19900540) Lu PJ … Lu QL (Biochimica et biophysica acta 2010) 3 4 22 60
  5. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PMID: 19299310) Mercuri E … Bertini E (Neurology 2009) 3 22 45 60

Products for FKRP Gene

Sources for FKRP Gene

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