Homo sapiens dysferlin

Homo sapiens dysferlin - Homo sapiens dysferlin, limb...

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Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 8, mRNA NCBI Reference Sequence: NM_003494.3 LOCUS NM_003494 6914 bp mRNA linear PRI 06- JUN-2010 DEFINITION Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 8, mRNA. ACCESSION NM_003494 VERSION NM_003494.3 GI:194394189 SOURCE Homo sapiens (human) 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 Transcript Variant: This variant (8) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (8) with an alternate N-terminus compared to isoform 1. Exon 1 gcggccgccg cccagccagg tgcaaaatgc cgtgtcattg ggagactccg cagccggagc attagattac agctcgacgg agctcgggaa gggcggcggg ggtggaagat gagcagaagc ccctgttctc ggaacgccgg ctgacaagcg gggtgagcgc agccggggcg gggacccagc ctagcccact ggagcagccg ggggtggccc gttccccttt aagagcaact gctctaagcc aggagccaga gattcgagcc ggcctcgccc agccagccct ctccagcgag gggacccaca agcggcgcct cggccctccc gacctttccg agccctcttt gcgccctggg cgcacggggc cctacacgcg ccaagcatgc tgagggtctt catcctctat gccgagaacg tccacacacc cgacaccgac atcagcgatg cctactgctc cgcggtgttt gcag Exon 2 gggtgaagaa gagaaccaaa gtcatcaaga acagcgtgaa ccctgtatgg aatgag Exon 3 ggatttgaat gggacctcaa gggcatcccc ctggaccagg gctctgagct tcatgtggtg gtcaaagacc atgagacgat ggggaggaac ag Exon 4 gttcctgggg gaagccaagg tcccactccg agaggtcctc gccaccccta gtctgtccgc cagcttcaat gcccccctgc tggacaccaa gaagcagccc acaggg Exon 5 gcctcgctgg tcctgcaggt gtcctacaca ccgctgcctg gagctgtgcc cctgttcccg
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ccccctactc ctctggagcc ctccccgact ctgcctgacc tggatgtagt ggcag Exon 6 acacaggagg agaggaagac acagaggacc agggactcac tggagatgag gcggagccat tcctggatca aagcggaggc ccgggggctc ccaccacccc aaggaaacta ccttcacgtc ctccgcccca ctaccccggg atcaaaagaa agcgaagtgc gcctacatct agaaagctgc tgtcagacaa accgcaggat ttccag Exon 7 atcagggtcc aggtgatcga ggggcgccag ctgccggggg tgaacatcaa gcctgtggtc aaggttaccg ctgcagggca gaccaagcgg acgcggatcc acaagggaaa cagcccactc ttcaatgag Exon 8 actcttttct tcaacttgtt tgactctcct ggggagctgt ttgatgagcc catctttatc acg Exon 9 gtggtagact ctcgttctct caggacagat gctctcctcg gggagttccg g Exon 10 atggacgtgg gcaccattta cagagagccc c Exon 11 ggcacgccta tctcaggaag tggctgctgc tctcagaccc tgatgacttc tctgctgggg ccagaggcta cctgaaaaca agcctttgtg tgctggggcc tggggacgaa gcgcct
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This note was uploaded on 10/12/2010 for the course BC BC367 taught by Professor Millard during the Spring '10 term at Colby.

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Homo sapiens dysferlin - Homo sapiens dysferlin, limb...

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