Primary Identifier | MGI:104903 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 14734 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable peptidyl-dipeptidase inhibitor activity. Involved in mesenchymal cell proliferation involved in ureteric bud development. Acts upstream of or within several processes, including kidney development; positive regulation of transport; and regulation of signal transduction. Located in lysosome and plasma membrane. Is expressed in several structures, including branchial arch; embryo mesenchyme; future brain; lower jaw; and urinary system. Used to study Simpson-Golabi-Behmel syndrome type 1. Human ortholog(s) of this gene implicated in Simpson-Golabi-Behmel syndrome type 1; hepatocellular carcinoma; and nephroblastoma. Orthologous to human GPC3 (glypican 3). PHENOTYPE: A gene trap mutation exibits neonatal lethality, embryonic overgrowth and kidney cysts. [provided by MGI curators] |