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Aliases for DYSF Gene

Aliases for DYSF Gene

  • Dysferlin 2 3 3 5
  • Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive) 2 3
  • Fer-1-Like Family Member 1 2 3
  • Fer-1-Like Protein 1 3 4
  • FER1L1 3 4
  • Dystrophy-Associated Fer-1-Like Protein 4
  • Dystrophy-Associated Fer-1-Like 1 3
  • LGMD2B 3
  • MMD1 3

External Ids for DYSF Gene

Previous HGNC Symbols for DYSF Gene

  • LGMD2B

Previous GeneCards Identifiers for DYSF Gene

  • GC02P071690
  • GC02P071891
  • GC02P071655
  • GC02P071592
  • GC02P071680

Summaries for DYSF Gene

Entrez Gene Summary for DYSF Gene

  • The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]

GeneCards Summary for DYSF Gene

DYSF (Dysferlin) is a Protein Coding gene. Diseases associated with DYSF include Muscular Dystrophy, Limb-Girdle, Type 2B and Miyoshi Muscular Dystrophy 1. Among its related pathways are Cardiac conduction and Smooth Muscle Contraction. GO annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding. An important paralog of this gene is MYOF.

UniProtKB/Swiss-Prot for DYSF Gene

  • Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity).

Gene Wiki entry for DYSF Gene

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

Genomics for DYSF Gene

Regulatory Elements for DYSF Gene

Enhancers for DYSF 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
GH02G071448 1.7 FANTOM5 Ensembl ENCODE dbSUPER 35.1 +1.0 983 10.3 PKNOX1 SIN3A YY1 ETS1 TCF12 GATA2 FOS ZNF263 MAFF SMARCA4 DYSF ZNF638 RNU6-105P PAIP2B OR7E91P NAGK GC02P071578
GH02G071495 1.6 FANTOM5 Ensembl ENCODE dbSUPER 24.8 +45.3 45257 5.7 JUN TEAD4 CEBPG YBX1 GATA3 CTBP1 POLR2A FOS STAT1 HLF DYSF GC02P071578
GH02G071501 1.4 VISTA Ensembl ENCODE dbSUPER 17.2 +51.1 51148 5.0 NFIB ZIK1 REST ZNF491 ZIC2 NR2F2 ZFHX2 NFIC POLR2A ZNF544 DYSF ENSG00000233870 PAIP2B GC02P071578
GH02G071490 1.8 VISTA Ensembl ENCODE dbSUPER 11 +39.4 39361 3.2 BCOR SOX13 ZNF146 JUN ZNF140 ZMYM3 CEBPG GATA2 NR2F6 FOS DYSF GC02P071578
GH02G071472 1.2 Ensembl ENCODE dbSUPER 5.9 +21.1 21055 2.5 SOX13 ZIC2 GATA2 SCRT2 FOS NR2F6 NFIA HLF PPARG NR2F2 DYSF GC02P071578
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DYSF on UCSC Golden Path with GeneCards custom track

Promoters for DYSF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000118779 481 801 HDAC1 CBX3 YY1 TCF12 EGR1 CREM ZBTB2 ZEB2 SMARCA4 IKZF1

Transcription factor binding sites by QIAGEN in the DYSF gene promoter:

Genomic Location for DYSF Gene

Chromosome:
2
Start:
71,453,119 bp from pter
End:
71,686,768 bp from pter
Size:
233,650 bases
Orientation:
Plus strand

Genomic View for DYSF Gene

Genes around DYSF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DYSF Gene

Proteins for DYSF Gene

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

    Protein Symbol:
    O75923-DYSF_HUMAN
    Recommended name:
    Dysferlin
    Protein Accession:
    O75923
    Secondary Accessions:
    • A0FK00
    • B1PZ70
    • B1PZ71
    • B1PZ72
    • B1PZ73
    • B1PZ74
    • B1PZ75
    • B1PZ76
    • B1PZ77
    • B1PZ78
    • B1PZ79
    • B1PZ80
    • B1PZ81
    • B3KQB9
    • O75696
    • Q09EX5
    • Q0H395
    • Q53QY3
    • Q53TD2
    • Q8TEL8
    • Q9UEN7

    Protein attributes for DYSF Gene

    Size:
    2080 amino acids
    Molecular mass:
    237295 Da
    Quaternary structure:
    • Interacts with CACNA1S. Interacts with ANXA1; the interaction is Ca(2+)- and injury state-dependent. Interacts with ANXA2; the interaction is Ca(2+)- and injury state-dependent. Interacts with CACNA1S and PARVB. Interacts with TRIM72/MG53; interaction is required for transport to sites of cell injury during repair patch formation (By similarity). Interacts with CAV3 and PARVB. Interacts with AHNAK; the interaction is direct and Ca(2+)-independent. Interacts with AHNAK2; the interaction is direct and Ca(2+)-independent.
    SequenceCaution:
    • Sequence=BAG51981.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA07603.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA07603.1; Type=Frameshift; Positions=1972; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DYSF Gene

neXtProt entry for DYSF Gene

Post-translational modifications for DYSF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DYSF Gene

Domains & Families for DYSF Gene

Gene Families for DYSF Gene

Suggested Antigen Peptide Sequences for DYSF Gene

Graphical View of Domain Structure for InterPro Entry

O75923

UniProtKB/Swiss-Prot:

DYSF_HUMAN :
  • All seven C2 domains associate with lipid membranes in a calcium-dependent manner. Domains C2 1 and 3 have the highest affinity for calcium, the C2 domain 1 seems to be largely unstructured in the absence of bound ligands. The C2 domain 1 from isoform 14 does not bind calcium in the absence of bound phospholipid (PubMed:24239457, PubMed:24461013).
  • Belongs to the ferlin family.
Domain:
  • All seven C2 domains associate with lipid membranes in a calcium-dependent manner. Domains C2 1 and 3 have the highest affinity for calcium, the C2 domain 1 seems to be largely unstructured in the absence of bound ligands. The C2 domain 1 from isoform 14 does not bind calcium in the absence of bound phospholipid (PubMed:24239457, PubMed:24461013).
Family:
  • Belongs to the ferlin family.
genes like me logo Genes that share domains with DYSF: view

Function for DYSF Gene

Molecular function for DYSF Gene

GENATLAS Biochemistry:
dysferlin,related to the C elegans spermatogenesis factor fer-1,sarcolemmal protein,highly expressed in skeletal muscle,also expressed in heart and placenta,deleted in SJL mice
UniProtKB/Swiss-Prot Function:
Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity).

Gene Ontology (GO) - Molecular Function for DYSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 24239457
GO:0005515 protein binding IPI 17185750
GO:0005543 phospholipid binding IDA 24239457
GO:0005544 calcium-dependent phospholipid binding IMP 11959863
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with DYSF: view
genes like me logo Genes that share phenotypes with DYSF: view

Human Phenotype Ontology for DYSF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DYSF Gene

MGI Knock Outs for DYSF:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for DYSF Gene

Localization for DYSF Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYSF Gene

Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein. Cell membrane. Note=Colocalizes, during muscle differentiation, with BIN1 in the T-tubule system of myotubules and at the site of contact between two myotubes or a myoblast and a myotube. Wounding of myotubes led to its focal enrichment to the site of injury and to its relocalization in a Ca(2+)-dependent manner toward the plasma membrane. Colocalizes with AHNAK, AHNAK2 and PARVB at the sarcolemma of skeletal muscle. Detected on the apical plasma membrane of the syncytiotrophoblast. Reaches the plasmma membrane through a caveolin-independent mechanism. Retained by caveolin at the plasmma membrane (By similarity). Colocalizes, during muscle differentiation, with CACNA1S in the T-tubule system of myotubules (By similarity). Accumulates and colocalizes with fusion vesicles at the sarcolemma disruption sites (By similarity). {ECO:0000250}.

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 DYSF gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
endosome 5
peroxisome 2
cytosol 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DYSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IDA 20595382
GO:0005769 early endosome IDA 20595382
GO:0005770 late endosome IDA 20595382
GO:0005815 microtubule organizing center IDA --
GO:0005886 plasma membrane TAS,IDA 20595382
genes like me logo Genes that share ontologies with DYSF: view

Pathways & Interactions for DYSF Gene

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

Pathways by source for DYSF Gene

2 Reactome pathways for DYSF Gene

Gene Ontology (GO) - Biological Process for DYSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001778 plasma membrane repair IEA --
GO:0006906 vesicle fusion IEA --
GO:0006936 muscle contraction TAS --
genes like me logo Genes that share ontologies with DYSF: view

No data available for SIGNOR curated interactions for DYSF Gene

Drugs & Compounds for DYSF Gene

(1) Drugs for DYSF Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for DYSF Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DYSF: view

Transcripts for DYSF Gene

Unigene Clusters for DYSF Gene

Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive):
Representative Sequences:

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2:

ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39a · 39b ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^
SP1:
SP2: -

ExUns: 51 ^ 52 ^ 53 ^ 54 ^ 55
SP1:
SP2:

Relevant External Links for DYSF Gene

GeneLoc Exon Structure for
DYSF
ECgene alternative splicing isoforms for
DYSF

Expression for DYSF Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DYSF Gene

This gene is overexpressed in Whole Blood (x24.3) and Muscle - Skeletal (x4.3).

Protein differential expression in normal tissues from HIPED for DYSF Gene

This gene is overexpressed in Placenta (17.4) and Spleen (6.5).

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



Protein tissue co-expression partners for DYSF Gene

NURSA nuclear receptor signaling pathways regulating expression of DYSF Gene:

DYSF

SOURCE GeneReport for Unigene cluster for DYSF Gene:

Hs.252180

mRNA Expression by UniProt/SwissProt for DYSF Gene:

O75923-DYSF_HUMAN
Tissue specificity: Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Ubiquitous. Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lower levels in liver, lung, kidney and pancreas.

Evidence on tissue expression from TISSUES for DYSF Gene

  • Muscle(4.8)
  • Liver(4.4)
  • Spleen(4.3)
  • Nervous system(3.9)
  • Blood(2.4)
  • Heart(2.4)
  • Intestine(2)
  • Pancreas(2)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Limb:
  • ankle
  • arm
  • femur
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with DYSF: view

Primer Products

Orthologs for DYSF Gene

This gene was present in the common ancestor of animals.

Orthologs for DYSF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DYSF 34 35
  • 98.3 (n)
dog
(Canis familiaris)
Mammalia DYSF 34 35
  • 89.85 (n)
cow
(Bos Taurus)
Mammalia DYSF 34 35
  • 89.15 (n)
mouse
(Mus musculus)
Mammalia Dysf 34 16 35
  • 87.95 (n)
rat
(Rattus norvegicus)
Mammalia Dysf 34
  • 87.76 (n)
oppossum
(Monodelphis domestica)
Mammalia DYSF 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DYSF 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves DYSF 34 35
  • 76.09 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 43 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11849 34
zebrafish
(Danio rerio)
Actinopterygii dysf 34 35
  • 67.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5747 36
  • 32 (a)
mfr 35
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fer-1 34 35
  • 43.25 (n)
ferl-1 35
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
ManyToMany
-- 35
  • 41 (a)
ManyToMany
-- 35
  • 41 (a)
ManyToMany
Species where no ortholog for DYSF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for DYSF Gene

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

Paralogs for DYSF Gene

Paralogs for DYSF Gene

(2) SIMAP similar genes for DYSF Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DYSF: view

Variants for DYSF Gene

Sequence variations from dbSNP and Humsavar for DYSF Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs115407852 Uncertain significance, Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] 71,681,053(+) GGAGC(A/G)GCCTG reference, missense
rs121908954 Pathogenic, Limb-girdle muscular dystrophy 2B (LGMD2B) [MIM:253601], Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] 71,602,794(+) CAAGG(A/G)TCCTG nc-transcript-variant, reference, missense
rs121908955 Pathogenic, Limb-girdle muscular dystrophy 2B (LGMD2B) [MIM:253601], Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] 71,682,597(+) GGCGG(C/T)GTTTC reference, missense
rs121908956 Pathogenic, Limb-girdle muscular dystrophy 2B (LGMD2B) [MIM:253601], Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] 71,564,074(+) CCTGC(C/G/T)GGACA nc-transcript-variant, reference, missense
rs121908957 Limb-girdle muscular dystrophy 2B (LGMD2B) [MIM:253601], Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]

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

Variant ID Type Subtype PubMed ID
dgv1932n106 CNV tandem duplication 24896259
dgv2167e59 CNV duplication 20981092
dgv3865n100 CNV gain 25217958
esv2437559 CNV deletion 19546169
esv2667653 CNV deletion 23128226
esv29541 CNV gain 19812545
esv3322446 CNV insertion 20981092
esv3394131 CNV insertion 20981092
esv3431817 CNV insertion 20981092
esv3583862 CNV loss 25503493
esv3591229 CNV loss 21293372
esv3591230 CNV loss 21293372
esv3591232 CNV loss 21293372
esv3591233 CNV loss 21293372
nsv1005686 CNV gain 25217958
nsv1124792 CNV duplication 24896259
nsv1129207 CNV insertion 24896259
nsv1145794 CNV insertion 26484159
nsv1152366 CNV duplication 26484159
nsv458141 CNV loss 19166990
nsv458163 CNV gain 19166990
nsv458174 CNV loss 19166990
nsv520271 CNV gain 19592680
nsv520337 CNV loss 19592680
nsv520774 CNV loss 19592680
nsv521345 CNV loss 19592680
nsv525538 CNV loss 19592680
nsv582197 CNV loss 21841781
nsv582198 CNV loss 21841781
nsv582199 CNV gain 21841781
nsv582200 CNV loss 21841781
nsv582201 CNV gain 21841781

Variation tolerance for DYSF Gene

Residual Variation Intolerance Score: 79.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.74; 83.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DYSF Gene

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

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

Disorders for DYSF Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search DYSF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DYSF_HUMAN
  • Distal myopathy with anterior tibial onset (DMAT) [MIM:606768]: Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive. {ECO:0000269 PubMed:11198284}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Limb-girdle muscular dystrophy 2B (LGMD2B) [MIM:253601]: An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs. {ECO:0000269 PubMed:10196377, ECO:0000269 PubMed:11134403, ECO:0000269 PubMed:14678801, ECO:0000269 PubMed:15469449, ECO:0000269 PubMed:16010686, ECO:0000269 PubMed:16100712, ECO:0000269 PubMed:16705711, ECO:0000269 PubMed:16996541, ECO:0000269 PubMed:17287450, ECO:0000269 PubMed:18306167, ECO:0000269 PubMed:18853459, ECO:0000269 PubMed:9731526}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]: A late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood. {ECO:0000269 PubMed:10196377, ECO:0000269 PubMed:11134403, ECO:0000269 PubMed:11468312, ECO:0000269 PubMed:11959863, ECO:0000269 PubMed:12796534, ECO:0000269 PubMed:15116377, ECO:0000269 PubMed:15469449, ECO:0000269 PubMed:15477515, ECO:0000269 PubMed:15515206, ECO:0000269 PubMed:16010686, ECO:0000269 PubMed:16100712, ECO:0000269 PubMed:17287450, ECO:0000269 PubMed:18306167, ECO:0000269 PubMed:18853459, ECO:0000269 PubMed:9731526, ECO:0000269 Ref.26}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DYSF

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

No data available for Genatlas for DYSF Gene

Publications for DYSF Gene

  1. Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms. (PMID: 19221801) Pramono Z.A. … Yee W.C. (Hum. Genet. 2009) 3 4 22 64
  2. Analysis of the DYSF mutational spectrum in a large cohort of patients. (PMID: 18853459) Krahn M. … Levy N. (Hum. Mutat. 2009) 3 4 22 64
  3. Dysferlin-deficient muscular dystrophy features amyloidosis. (PMID: 18306167) Spuler S. … Rocken C. (Ann. Neurol. 2008) 3 4 22 64
  4. Symptomatic dysferlin gene mutation carriers: characterization of two cases. (PMID: 17287450) Illa I. … Gallardo E. (Neurology 2007) 3 4 22 64
  5. From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. (PMID: 17363620) Klinge L. … Bushby K. (FASEB J. 2007) 3 4 22 64

Products for DYSF Gene

Sources for DYSF Gene

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