May play an integral structural role in elastic-fiber architectural organization and/or assembly.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
N-Glycosylated.
Contains hydroxylated asparagine residues.
Belongs to the LTBP family.
Expressed in the aorta (at protein level). Expressed in lung, weakly expressed in heart, placenta, liver and skeletal muscle.
Proteins
195052Da
We found 3 products in 3 categories
ab121193
ab313988
ab158832