Recombinant Human LTBP2 protein (ab158832)

May play an integral structural role in elastic-fiber architectural organization and/or assembly.

Expressed in lung, weakly expressed in heart, placenta, liver and skeletal muscle.

Defects in LTBP2 are the cause of primary congenital glaucoma type 3D (GLC3D) [MIM:613086]. 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) [MIM:251750]. 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.

Belongs to the LTBP family.
Contains 20 EGF-like domains.
Contains 4 TB (TGF-beta binding) domains.

Associates covalently with small latent TGF-beta complex via Repeat B and Repeat C.

Contains hydroxylated asparagine residues.

Secreted. Localized in nuchal ligament and aorta to the fibrillin-containing, microfibrillar component of elastic fibers.