Primary Identifier | MGI:2685814 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 545291 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable heparan sulfate proteoglycan binding activity. Acts upstream of or within extracellular matrix organization and positive regulation of cell population proliferation. Predicted to be located in extracellular region and membrane. Predicted to be active in extracellular matrix and extracellular space. Is expressed in bladder; brain; metanephros; and ureter. Used to study urofacial syndrome. Human ortholog(s) of this gene implicated in urofacial syndrome. Orthologous to human HPSE2 (heparanase 2 (inactive)). PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit growth retardation, a distended urinary bladder, abnormal voiding behavior, proteinuria, renal dysfunction and malnutrition, reduced cell proliferation, urinary bladder fibrosis, and lethality within one month of age. [provided by MGI curators] |