| Primary Identifier | MGI:2140361 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 242585 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables pyrimidine nucleotide-sugar transmembrane transporter activity. Acts upstream of or within chondroitin sulfate biosynthetic process; embryonic skeletal system development; and pyrimidine nucleotide-sugar transmembrane transport. Located in endoplasmic reticulum. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and respiratory system. Used to study schneckenbecken dysplasia. Human ortholog(s) of this gene implicated in schneckenbecken dysplasia. Orthologous to human SLC35D1 (solute carrier family 35 member D1). PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality and chondrodystrophy associated with impaired chondroitin sulfate biosynthesis. [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
