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- Table of Contents
Facts about Myotilin.
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Human | |
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Gene Name: | MYOT |
Uniprot: | Q9UBF9 |
Entrez: | 9499 |
Belongs to: |
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myotilin/palladin family |
57 kDa cytoskeletal protein; LGMD1A; limb-girdle muscular dystrophy 1A (autosomal dominant); Myofibrillar titin-like Ig domains protein; myotilin; titin immunoglobulin domain protein (myotilin); Titin immunoglobulin domain protein; TTIDLGMD1
Mass (kDA):
55.395 kDA
Human | |
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Location: | 5q31.2 |
Sequence: | 5; NC_000005.10 (137867282..137887851) |
Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow and thyroid gland.
Cell membrane, sarcolemma. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Sarcomeric, also localized to the sarcolemma (PubMed:10369880). Colocalizes with MYOZ1 at the Z-lines in skeletal muscle (PubMed:16076904).
PMID: 10486214 by Godley L.A., et al. TTID: a novel gene at 5q31 encoding a protein with titin-like features.
PMID: 10369880 by Salmikangas P., et al. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.