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- AMCD1
- DA1
- HGNC:454
- TMSB
- arthrogryposis multiplex congenital,
distal, type 1
- tropomyosin 2 (beta)
- Tropomyosin beta chain (Tropomyosin 2) (Beta-tropomyosin).
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- This protein belongs to topomyosin
family and play a central role in association with the troponin
complex, in the calcium dependent regulation of vertebrate striated. Binds to actin
filaments in muscle and nonmuscle 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 nonmuscle cells is
implicated in stabilizing cytoskeleton actin filaments. The molecule is in a coiled coil
structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven-
residues periodicity
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- Location: 9p13.2-p13.1
- Orientation: minus strand
- Size: 8,063 bp
- 9 exons
- DNA sequence (Human): NC_000009.
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- Mutations and SNPs (According
to HGMD and SNP)
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Subcellular location:
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Protein domains
Protein sequence (Human): P07951
Homologous genes: TPM2
2D PAGE: P07951
3D Structure:
PTM: TPM2
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Clinical
(According to OMIM, PubMed) |
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