Search Thermo Fisher Scientific
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Immunogen sequence: MLRVIVESAS NIPKTKFGKP DPIVSVIFKD EKKKTKKVDN ELNPVWNEIL EFDLRGIPLD FSSSLGIIVK DFETIGQNKL IGTATVALKD LTGDQSRSLP YKLISLLNEK GQDTGATIDL VIGYDPPSAP HPNDLSGPSV PGMGGDGEED EGDEDRLDNA VRGPGPKGPV GTVSEAQLAR RLTKVKNSRR; Positive Samples: U-251MG, A-549, HeLa, NIH/3T3; Cellular Location: Cell membrane, Cytoplasmic vesicle membrane, Nucleus membrane, Single-pass type II membrane protein
Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined.
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Protein Aliases: fer-1-like 3, myoferlin; fer-1-like family member 3; Fer-1-like protein 3; Myoferlin
Gene Aliases: 2310004N10Rik; 2310051D19Rik; E030042N20Rik; FER1L3; KIAA1207; MYOF
UniProt ID: (Human) Q9NZM1, (Mouse) Q69ZN7
Entrez Gene ID: (Human) 26509, (Mouse) 226101
Molecular Function: membrane trafficking regulatory protein
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