| Primary Identifier | MGI:104719 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 15531 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables N-acetylglucosamine deacetylase activity; [heparan sulfate]-glucosamine N-sulfotransferase activity; and heparan sulfate N-deacetylase activity. Involved in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process. Acts upstream of or within several processes, including circulatory system development; embryonic cranial skeleton morphogenesis; and positive regulation of signal transduction. Is active in Golgi apparatus. Is expressed in several structures, including alimentary system; future brain; integumental system; nervous system; and respiratory system. Used to study DiGeorge syndrome; congenital diaphragmatic hernia; and newborn respiratory distress syndrome. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 46. Orthologous to human NDST1 (N-deacetylase and N-sulfotransferase 1). PHENOTYPE: Mice homozygous for disruptions in this gene die late in gestation or neonatally. Lungs fail to inflate and mice born alive experience respiratory distress and failure. [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
