Primary Identifier | MGI:1341847 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 15245 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable hedgehog family protein binding activity and zinc ion binding activity. Involved in negative regulation of smoothened signaling pathway and skeletal system morphogenesis. Acts upstream of or within several processes, including epithelial tube branching involved in lung morphogenesis; neuroblast proliferation; and regulation of fibroblast growth factor receptor signaling pathway. Located in cell surface and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and sensory organ. Human ortholog(s) of this gene implicated in chronic obstructive pulmonary disease. Orthologous to human HHIP (hedgehog interacting protein). PHENOTYPE: Mice homozygous for a reporter allele die shortly after birth due to respiratory failure, show defects in lung, spleen and pancreas morphogenesis, and exhibit small and disorganized pancreatic islets and reduced beta-cell proliferation. [provided by MGI curators] |