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- Table of Contents
Facts about Dysferlin.
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Human | |
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Gene Name: | DYSF |
Uniprot: | O75923 |
Entrez: | 8291 |
Belongs to: |
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ferlin family |
dysferlin; dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive); dystrophy-associated fer-1-like 1; FER1L1Dystrophy-associated fer-1-like protein; Fer-1-like protein 1; FLJ00175; FLJ90168; LGMD2B
Mass (kDA):
237.295 kDA
Human | |
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Location: | 2p13.2 |
Sequence: | 2; NC_000002.12 (71453154..71686763) |
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.
Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein. Cell membrane. 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 syncy
PMID: 9731526 by Liu J., et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
PMID: 16896923 by Pramono Z.A.D., et al. Identification and characterization of a novel human dysferlin transcript: dysferlin_v1.