catalog number :
MBS427437
products full name :
LTBP2 Immunizing Peptide
products short name :
LTBP2
products name syn :
LTBP2; latent transforming growth factor beta binding protein 2; C14orf141; LTBP3; MSTP031
other names :
latent-transforming growth factor beta-binding protein 2; Latent-transforming growth factor beta-binding protein 2; latent-transforming growth factor beta-binding protein 2; latent transforming growth factor beta binding protein 2
products gene name :
LTBP2
other gene names :
LTBP2; LTBP2; WMS3; GLC3D; LTBP3; MSPKA; MSTP031; C14orf141; C14orf141; LTBP3; LTBP-2
uniprot entry name :
LTBP2_HUMAN
reactivity :
Human, Mouse, Rat, Dog
sequence :
C-NSTSSTEDLPDHD
form :
100ug of dried peptide
storage stability :
Shipped at ambient temperature, store at -20 degree C
ncbi acc num :
NP_000419.1
ncbi gb acc num :
NM_000428.2
ncbi mol weight :
195,052 Da
ncbi pathways :
Elastic Fibre Formation Pathway (1270251); Extracellular Matrix Organization Pathway (1270244); Molecules Associated With Elastic Fibres Pathway (1270252)
ncbi 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]
uniprot summary :
LTBP2: May play an integral structural role in elastic-fiber architectural organization and/or assembly. Defects in LTBP2 are the cause of primary congenital glaucoma type 3D (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. Defects in LTBP2 are the cause of microspherophakia (MCSPH). It is 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. Defects in LTBP2 are the cause of Weill-Marchesani syndrome 3 (WMS3). A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities. Belongs to the LTBP family. Protein type: Secreted, signal peptide; Secreted. Chromosomal Location of Human Ortholog: 14q24. Cellular Component: extracellular matrix; extracellular space; intracellular; proteinaceous extracellular matrix. Molecular Function: calcium ion binding; growth factor binding; heparin binding; protein binding. Biological Process: fibril organization and biogenesis; protein secretion; protein targeting; transforming growth factor beta receptor signaling pathway. Disease: Glaucoma 3, Primary Congenital, D; Glaucoma 3, Primary Infantile, B; Microspherophakia And/or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma; Weill-marchesani Syndrome 3