| Primary Identifier | MGI:99461 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 18700 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable phosphatidylinositol N-acetylglucosaminyltransferase activity. Acts upstream of or within GPI anchor biosynthetic process and cellular response to leukemia inhibitory factor. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex. Is expressed in 1st branchial arch; central nervous system; heart; limb; and medial-nasal process. Used to study autosomal recessive congenital ichthyosis 4B. Human ortholog(s) of this gene implicated in multiple congenital anomalies-hypotonia-seizures syndrome 2 and paroxysmal nocturnal hemoglobinuria. Orthologous to human PIGA (phosphatidylinositol glycan anchor biosynthesis class A). PHENOTYPE: Mutations produce lethal neural tube defects. Specific allele combinations are viable but oocytes are defective. Neural crest cell-specific KO leads to cleft lip and palate and craniofacial skeleton abnormalities. [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
