Dysferlin (DYSF)

FER1L1; LGMD2B; Dysferlin,Limb Girdle Muscular Dystrophy 2B(Autosomal Recessive); Fer-1-like protein 1; Dystrophy-associated fer-1-like protein

SPN	U403
HGNC	3097
MGI	1349385
PubMed	9731526
RGD	1311023
UniProt	O75923
Wiki	Dysferlin

Dysferlin is a protein linked with skeletal muscle repair. A defect in the dysferlin gene, chromosome location 2p12-14, results in either of two types of muscular dystrophy; Miyoshi myopathy (MM) and Limb-girdle muscular dystrophy type 2B (LGMD2B). A reduction or absence of dysferlin usually becomes apparent in the third or forth decade of life and is characterised by weakness and wasting of various voluntary skeletal muscles.
The Jain Foundation Inc. is focused on finding a cure for this specific disease. The foundation is sponsoring targeted research and helping educate the patients on the importance of determining the mutations in their dysferlin gene.

Reference

"Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy."
Nat. Genet. 20:31-36(1998) [PubMed] [Europe PMC] [Abstract]

"Identification and characterization of a novel human dysferlin transcript: dysferlin_v1."
Hum. Genet. 120:410-419(2006) [PubMed] [Europe PMC] [Abstract]

"Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms."
Hum. Genet. 125:413-420(2009) [PubMed] [Europe PMC] [Abstract]

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

"A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B."
Nat. Genet. 20:37-42(1998) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"Dysferlin is a plasma membrane protein and is expressed early in human development."
Hum. Mol. Genet. 8:855-861(1999) [PubMed] [Europe PMC] [Abstract]

Erratum
Hum. Mol. Genet. 8:1141-1141(1999)

"Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy."
Neurology 53:1119-1122(1999) [PubMed] [Europe PMC] [Abstract]

"Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)."
Hum. Mol. Genet. 8:871-877(1999) [PubMed] [Europe PMC] [Abstract]

"Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype."
Ann. Neurol. 49:130-134(2001) [PubMed] [Europe PMC] [Abstract]

"The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle."
Hum. Mol. Genet. 10:1761-1766(2001) [PubMed] [Europe PMC] [Abstract]

"Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains."
J. Biol. Chem. 277:22883-22888(2002) [PubMed] [Europe PMC] [Abstract]

"Developmental and tissue-specific regulation of a novel dysferlin isoform."
Muscle Nerve 30:366-374(2004) [PubMed] [Europe PMC] [Abstract]

"Dysferlin interacts with affixin (beta-parvin) at the sarcolemma."
J. Neuropathol. Exp. Neurol. 64:334-340(2005) [PubMed] [Europe PMC] [Abstract]

"Dysferlin is expressed in human placenta but does not associate with caveolin."
Biol. Reprod. 77:533-542(2007) [PubMed] [Europe PMC] [Abstract]

"AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration."
FASEB J. 21:732-742(2007) [PubMed] [Europe PMC] [Abstract]

"From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis."
FASEB J. 21:1768-1776(2007) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Quantitation of the calcium and membrane binding properties of the c2 domains of dysferlin."
Biophys. J. 106:382-389(2014) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Crystal structures of the human Dysferlin inner DysF domain."
BMC Struct. Biol. 14:3-3(2014) [PubMed] [Europe PMC] [Abstract]

"Alternate splicing of dysferlin C2A confers Ca(2+)-dependent and Ca(2+)-independent binding for membrane repair."
Structure 22:104-115(2014) [PubMed] [Europe PMC] [Abstract]

"Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy."
Proc. Jpn. Acad. 75B:207-212(1999)

"Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy."
Neurology 55:1931-1933(2000) [PubMed] [Europe PMC] [Abstract]

"Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy."
Neurology 57:271-278(2001) [PubMed] [Europe PMC] [Abstract]

"Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype."
Neurology 60:1799-1804(2003) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population."
Neuromuscul. Disord. 13:788-795(2003) [PubMed] [Europe PMC] [Abstract]

"Phenotypic features and genetic findings in 2 Chinese families with Miyoshi distal myopathy."
Arch. Neurol. 61:1594-1599(2004) [PubMed] [Europe PMC] [Abstract]

"Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy."
Eur. J. Neurol. 11:657-661(2004) [PubMed] [Europe PMC] [Abstract]

"Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy."
Muscle Nerve 29:721-723(2004) [PubMed] [Europe PMC] [Abstract]

"Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy."
Yonsei Med. J. 45:927-930(2004) [PubMed] [Europe PMC] [Abstract]

"Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies."
Hum. Mutat. 26:165-165(2005) [PubMed] [Europe PMC] [Abstract]

Erratum
Hum. Mutat. 26:592-592(2005)

"Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies."
Hum. Mutat. 26:283-283(2005) [PubMed] [Europe PMC] [Abstract]

"Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding."
Hum. Mutat. 27:599-600(2006) [PubMed] [Europe PMC] [Abstract]

"Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions."
J. Neurol. Sci. 250:71-78(2006) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

"Symptomatic dysferlin gene mutation carriers: characterization of two cases."
Neurology 68:1284-1289(2007) [PubMed] [Europe PMC] [Abstract]

"Dysferlin-deficient muscular dystrophy features amyloidosis."
Ann. Neurol. 63:323-328(2008) [PubMed] [Europe PMC] [Abstract]

"Analysis of the DYSF mutational spectrum in a large cohort of patients."
Hum. Mutat. 30:E345-E375(2009) [PubMed] [Europe PMC] [Abstract]