Full name: myotilin

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: 5530402I04Rik; Ttid

Summary: Predicted to enable alpha-actinin binding activity and cell-cell adhesion mediator activity. Predicted to be involved in axon guidance; dendrite self-avoidance; and homophilic cell adhesion via plasma membrane adhesion molecules. Located in Z disc. Is expressed in several structures, including embryo mesenchyme; gut; lung; mesonephros; and nervous system. Human ortholog(s) of this gene implicated in muscular dystrophy; myofibrillar myopathy 3; and spheroid body myopathy. Orthologous to human MYOT (myotilin). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Biased expression in mammary gland adult (RPKM 26.3), heart adult (RPKM 5.5) and 4 other tissues

Gene size: 21670bp

Exon count: 10