| 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 7.1.0) Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation. Acts upstream of or within spermatogenesis. 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
