Primary Identifier | MGI:1932137 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 81877 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables collagen binding activity and heparin binding activity. Acts upstream of or within several processes, including collagen fibril organization; regulation of JNK cascade; and triglyceride metabolic process. Located in extracellular matrix and extracellular space. Is expressed in several structures, including alimentary system; endocrine gland; genitourinary system; heart and pericardium; and immune system. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and vesicoureteral reflux. Orthologous to human TNXB (tenascin XB). PHENOTYPE: Homozygous null mice have stretchy skin, similar to patients with human Ehlers-Danlos syndrome. [provided by MGI curators] |