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 8.0.0) Enables palmitoyltransferase activity. Involved in N-terminal peptidyl-L-cysteine N-palmitoylation. Acts upstream of or within protein palmitoylation and 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] |