形式 |
The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion.
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復溶 |
A homozygous mutation in LTBP2 causes isolated microspherophakia. Kumar A, et al. Hum Genet, 2010 Oct. PMID 20617341.Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection. Nalpas B, et al. Gut, 2010 Aug. PMID 20587546.L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. Yokoyama K, et al. Nephron Clin Pract, 2010. PMID 20424473.Association of genetic variants with hemorrhagic stroke in Japanese individuals. Yoshida T, et al. Int J Mol Med, 2010 Apr. PMID 20198315.LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. D?sir J, et al. Eur J Hum Genet, 2010 Jul. PMID 20179738.
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儲存溶液 |
Latent-transforming growth factor beta-binding protein 2, LTBP-2, LTBP2, C14orf141, LTBP3
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