Gene Symbol | LTBP2 |
Entrez Gene ID | 4053 |
Full Name | latent transforming growth factor beta binding protein 2 |
Synonyms | C14orf141,GLC3D,LTBP3,MSPKA,MSTP031,WMS3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Glaucoma 3, primary congenital, D, 613086 (3); Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3); ?Weill-Marchesani syndrome 3, recessive, 614819 (3) |