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DYSF dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001130455 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_001130976 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 9, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_001130977 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 10, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_001130978 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 11, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_001130979 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 12, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_001130980 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 13, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_001130981 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 14, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_001130982 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 7, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_001130983 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 6, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_001130984 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_001130985 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_001130986 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_001130987 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $3749.00 35
NM_003494 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 8, mRNA. GenEZ ORF Cloning On-demand $3749.00 35

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Related Services

Gene Symbol DYSF
Entrez Gene ID 8291
Full Name dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Synonyms FER1L1, FLJ00175, FLJ90168, LGMD2B
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2p13.3

Summary 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].
Disorder

MIM: 603009

Muscular dystrophy, limb-girdle, type 2B, 253601 (3); Miyoshi

mRNA Protein Product Sequence Price Select
NM_001130455, 195976820 NP_001123927, 195976821 dysferlin isoform 2 ORF Sequence $3500.00
NM_001130976, 195976753 NP_001124448, 195976754 dysferlin isoform 9 ORF Sequence $3500.00
NM_001130977, 195976755 NP_001124449, 195976756 dysferlin isoform 10 ORF Sequence $3500.00
NM_001130978, 195976757 NP_001124450, 195976758 dysferlin isoform 11 ORF Sequence $3500.00
NM_001130979, 195976759 NP_001124451, 195976760 dysferlin isoform 12 ORF Sequence $3500.00
NM_001130980, 195976761 NP_001124452, 195976762 dysferlin isoform 13 ORF Sequence $3500.00
NM_001130981, 195976763 NP_001124453, 195976764 dysferlin isoform 14 ORF Sequence $3500.00
NM_001130982, 195976765 NP_001124454, 195976766 dysferlin isoform 7 ORF Sequence $3500.00
NM_001130983, 195976768 NP_001124455, 195976769 dysferlin isoform 6 ORF Sequence $3500.00
NM_001130984, 195976772 NP_001124456, 195976773 dysferlin isoform 5 ORF Sequence $3500.00
NM_001130985, 195976774 NP_001124457, 195976775 dysferlin isoform 4 ORF Sequence $3500.00
NM_001130986, 195976776 NP_001124458, 195976777 dysferlin isoform 3 ORF Sequence $3500.00
NM_001130987, 195976778 NP_001124459, 195976779 dysferlin isoform 1 ORF Sequence $3500.00
NM_003494, 194394189 NP_003485, 4503431 dysferlin isoform 8 ORF Sequence $3500.00
Homo sapiens (human)DYSFNP_001124455.1
Pan troglodytes (chimpanzee)DYSFXP_003309136.1
Macaca mulatta (Rhesus monkey)DYSFXP_002799336.1
Canis lupus familiaris (dog)DYSFXP_003432274.1
Bos taurus (cattle)DYSFNP_001095960.1
Mus musculus (house mouse)DysfNP_067444.2
Rattus norvegicus (Norway rat)DysfNP_001101339.1
Gallus gallus (chicken)DYSFXP_423126.3
Danio rerio (zebrafish)dysfXP_689416.4
Caenorhabditis elegansfer-1NP_492337.1
Caenorhabditis elegansferl-1NP_491602.1
GeneCards DYSF
UniProt O75923
MIM 603009
Ensembl ENSG00000135636
HGNC 3097
HPRD 04307

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

General protein information

Preferred Names
dysferlin
Names
dysferlin
fer-1-like protein 1
dystrophy-associated fer-1-like 1
dystrophy-associated fer-1-like protein

Interactant



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