latent transforming growth factor beta binding protein 2
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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. [provided by RefSeq, Jul 2008]
May play an integral structural role in elastic-fiber architectural organization and/or assembly.
From NCBI Gene:
- Glaucoma 3, primary congenital, d
- Glaucoma 3, primary infantile, b
- Weill-Marchesani syndrome 3
Glaucoma 3, primary congenital, D (GLC3D): An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. [MIM:613086]
Weill-Marchesani syndrome 3 (WMS3): A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma. [MIM:614819]
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma (MSPKA): A rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation. [MIM:251750]