Primary Identifier | MGI:2444681 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 226861 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables palmitoyltransferase activity. Acts upstream of or within smoothened signaling pathway. Predicted to be located in Golgi apparatus. Predicted to be active in endoplasmic reticulum. Is expressed in branchial arch; embryo; embryo ectoderm; and limb. Used to study chondrodysplasia-pseudohermaphroditism syndrome. Human ortholog(s) of this gene implicated in chondrodysplasia-pseudohermaphroditism syndrome. Orthologous to human HHAT (hedgehog acyltransferase). PHENOTYPE: Homozygous null mice display neonatal lethality, holoprosencephaly, short-limb dwarfism, and oligodactyly. [provided by MGI curators] |