The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Predicted molecular weight: 195 kDa. Preliminary experiments in Mouse and Rat Eye lysates gave no specific signal but low background (at antibody concentration up to 1µg/ml).
機能May play an integral structural role in elastic-fiber architectural organization and/or assembly.
組織特異性Expressed in lung, weakly expressed in heart, placenta, liver and skeletal muscle.
関連疾患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.
配列類似性Belongs to the LTBP family. Contains 20 EGF-like domains. Contains 4 TB (TGF-beta binding) domains.
ドメインAssociates covalently with small latent TGF-beta complex via Repeat B and Repeat C.
翻訳後修飾Contains hydroxylated asparagine residues.
細胞内局在Secreted. Localized in nuchal ligament and aorta to the fibrillin-containing, microfibrillar component of elastic fibers.