Primary Identifier | MGI:109151 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 268977 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Predicted to enable several functions, including microfibril binding activity; receptor ligand inhibitor activity; and transforming growth factor beta binding activity. Acts upstream of or within aorta development; coronary vasculature development; and ventricular septum development. Located in microfibril. Is expressed in several structures, including embryo mesenchyme; forebrain; genitourinary system; heart; and integumental system. Human ortholog(s) of this gene implicated in cutis laxa. Orthologous to human LTBP1 (latent transforming growth factor beta binding protein 1). PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. [provided by MGI curators] |