myotilin (titin immunoglobulin domain protein, myofibrillar titin-like Ig domains protein, 57 kD cytoskeletal protein, MYOT, TTID)

Function

• component of a complex of multiple actin cross-linking proteins
• role in control of myofibril assembly & stability at Z-disks in muscle cells
• interacts with ACTA1, ACTN1, FLNA, FLNB, FLNC & MYOZ2
• interacts with C-terminal region of MYOZ1

Structure

• homodimer
• contains 2 Ig-like C2-type domains (immunoglobulin-like)

Compartment

• cell membrane, sarcolemma
• colocalizes with MYOZ1 at Z-lines in skeletal muscle

Expression

• expressed in skeletal muscle, heart, bone marrow, thyroid

Pathology

• defects in MYOT are the cause of autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A)
• defects in MYOT are the cause of myotilinopathy
• defects in MYOT are the cause of spheroid body myopathy

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/159000
• OMIM: https://mirror.omim.org/entry/182920
• OMIM: https://mirror.omim.org/entry/604103
• UniProt: http://www.uniprot.org/uniprot/Q9UBF9.html