| Primary Identifier | MGI:894695 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 14425 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation. Acts upstream of or within several processes, including chondroitin sulfate biosynthetic process; limb development; and skeletal system development. Predicted to be located in perinuclear region of cytoplasm. Predicted to be active in Golgi apparatus. Is expressed in several structures, including alimentary system; brain; limb; respiratory system; and sensory organ. Used to study hyperphosphatemic familial tumoral calcinosis. Orthologous to human GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3). PHENOTYPE: Homozygotes for a null allele show low serum FGF23 levels, hyperphosphatemia, normal 1,25-dihydroxyvitamin D levels, and male-specific growth retardation, sterility and increased bone density. Males homozygous for another null allele show abnormal acrosome assembly and oligoasthenoteratozoospermia. [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
