| Primary Identifier | MGI:1890212 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 53627 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables Wnt-protein binding activity and palmitoleoyltransferase activity. Involved in Wnt signaling pathway; protein palmitoleylation; and regulation of postsynaptic membrane neurotransmitter receptor levels. Acts upstream of or within glycoprotein metabolic process. Located in endoplasmic reticulum membrane. Part of AMPA glutamate receptor complex. Is active in glutamatergic synapse. Is expressed in several structures, including anterior visceral endoderm; genitourinary system; nervous system; primitive streak; and sensory organ. Used to study focal dermal hypoplasia. Human ortholog(s) of this gene implicated in focal dermal hypoplasia. Orthologous to human PORCN (porcupine O-acyltransferase). PHENOTYPE: Mice homozygous for a conditional allele activated in the epiblast exhibit dermal atrophy, sternum hypoplasia, cleft palate, tail hypoplasia, absent autopod, and perinatal lethality. Mice hemizygous for a null allele exhibit eye defects modeling focal dermal hypoplasia. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
