Recombinant Human Fibrillin-2 (FBN2), Truncated

Uniprot Id

P35556

Target Species

Human

Target Name

FBN2

Target Full Name

Fibrillin-2

Target Function

Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.; Hormone secreted by trophoblasts that promotes trophoblast invasiveness. Has glucogenic activity: is able to increase plasma glucose levels.

Target Involvement

Arthrogryposis, distal, 9 (DA9); Macular degeneration, early-onset (EOMD)

Target Subcellular Location

Secreted.; [Fibrillin-2]: Secreted, extracellular space, extracellular matrix.; [Placensin]: Secreted.

Target Protein Families

Fibrillin family

Target Tissue Specificity

Almost exclusively expressed in placenta. Expressed at much lower level in other tissues. Expressed in fetal eye (18 weeks)in the retinal pigment epithelium (RPE), the choroid, Bruch's membrane and in the sclera. Not expressed in the neural retina.; [Plac

Target Synonyms

CCA ; congenital contractural arachnodactyly (Marfanoid-like); DA9; FBN2; FBN2_HUMAN; fibrillin 2 (congenital contractural arachnodactyly); Fibrillin-2

Target Background

The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly.