Immunogen sequence: MSSSAFPASP QQHAGSNPGQ RVTTTYNQSP ASFLSSILPS QPDYNSSKIP SAMDSNYQQS SAGQPINAKP SQTANAKPIP RTPDHEIQG
Highest antigen sequence identity to the following orthologs: Mouse - 78%, Rat - 79%.
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.
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Protein Aliases: 57 kDa cytoskeletal protein; LGMD1; LGMD1A; Myofibrillar titin-like Ig domains protein; Myotilin; Titin immunoglobulin domain protein; titin immunoglobulin domain protein (myotilin); TTID
Gene Aliases: LGMD1; LGMD1A; MFM3; MYOT; TTID; TTOD
UniProt ID: (Human) Q9UBF9
Entrez Gene ID: (Human) 9499
Molecular Function: cell adhesion molecule cytokine receptor defense/immunity protein hydrolase immunoglobulin receptor superfamily immunoglobulin superfamily cell adhesion molecule phosphatase protein phosphatase receptor