Mouse Anti-TPM2 Recombinant Antibody (CBYJT-4347) (CBMAB-T3834-YJ)

tropomyosin 2 (beta)

TPM2 is beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in TPM2 can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes.

Tropomyosin 2; Nemaline Myopathy Type 4; Tropomyosin 2 (Beta); TMSB; Arthrogryposis Multiplex Congenital, Distal, Type 1; Epididymis Secretory Protein Li 273; Tropomyosin Beta Chain; Beta-Tropomyosin

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.

Biological Process actin filament organization Source:GO_Central1 Publication
Biological Process muscle contraction Source:GO_Central1 Publication
Biological Process regulation of ATP-dependent activity Source:UniProtKB1 Publication

Cytoplasm, cytoskeleton
Associates with F-actin stress fibers.

Nemaline myopathy 4 (NEM4):
A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped 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.
Arthrogryposis, distal, 1A (DA1A):
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, 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.
Cap myopathy 2 (CAPM2):
A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and non-progressive or slowly progressive muscle weakness. Respiratory problems are common.
Arthrogryposis, distal, 2B4 (DA2B4):
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures.

Phosphorylated on Ser-61 by PIK3CG. Phosphorylation on Ser-61 is required for ADRB2 internalization (By similarity).