Recombinant Human Myotilin (MYOT)

Uniprot Id

Q9UBF9

Target Species

Human

Target Name

MYOT

Target Full Name

Myotilin

Target Function

Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells.

Target Involvement

Limb-girdle muscular dystrophy 1A (LGMD1A); Myopathy, myofibrillar, 3 (MFM3); Spheroid body myopathy (SBM)

Target Subcellular Location

Cell membrane, sarcolemma. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line.

Target Protein Families

Myotilin/palladin family

Target Tissue Specificity

Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow and thyroid gland.

Target Synonyms

57 kDa cytoskeletal protein; LGMD 1; LGMD1; Myofibrillar titin like Ig domains protein; Myofibrillar titin-like Ig domains protein; Myot; MYOTI_HUMAN; Myotilin; Titin immunoglobulin domain protein; TTID; TTID protein

Target Background

This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.