TPM2 Antibody – Rabbit Polyclonal

TPM2: Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. The non-muscle isoform may have a role in agonist-mediated receptor internalization. Defects in TPM2 are the cause of nemaline myopathy type 4 (NEM4). A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-or rod-like structures in muscle fibers on histologic examination. Nemaline myopathy type 4 presents from infancy to childhood with hypotonia and moderate-to-severe proximal weakness with minimal or no progression. Major motor milestones are delayed but independent ambulation is usually achieved, although a wheelchair may be needed in later life. Defects in TPM2 are the cause of distal arthrogryposis type 1A (DA1A). A form of distal arthrogryposis, a disease characterized by congenital joint flexures or contractures that mainly involve the distal parts of the limbs, and affect two or more different body areas in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. Belongs to the tropomyosin family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; Motor

Chromosomal Location of Human Ortholog: 9p13

Cellular Component: cytosol; muscle thin filament tropomyosin

Molecular Function: structural constituent of muscle; actin binding

Biological Process: regulation of ATPase activity; muscle contraction; muscle filament sliding

Disease: Nemaline Myopathy 4; Arthrogryposis, Distal, Type 1a; Myopathy, Congenital, With Fiber-type Disproportion; Arthrogryposis, Distal, Type 2b