Primary Identifier | MGI:1095405 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 19207 |
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; hedgehog receptor activity; and smoothened binding activity. Acts upstream of or within several processes, including epidermal cell fate specification; hair cycle; and positive regulation of epidermal cell differentiation. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and limb. Human ortholog(s) of this gene implicated in basal cell carcinoma and medulloblastoma. Orthologous to human PTCH2 (patched 2). PHENOTYPE: Male mice homozygous for a targeted gene disruption display anemia, abnormal red blood cells, enlarged spleens, extramedullary hematopoiesis, and an increased percentage of neutrophils. Most male mice homozygous for another allele display alopecia and skin lesions. [provided by MGI curators] |