| Primary Identifier | MGI:97836 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 110391 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable 6,7-dihydropteridine reductase activity; adenyl nucleotide binding activity; and identical protein binding activity. Predicted to be involved in L-phenylalanine catabolic process and tetrahydrobiopterin biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; nose; and respiratory system. Human ortholog(s) of this gene implicated in BH4-deficient hyperphenylalaninemia C and phenylketonuria. Orthologous to human QDPR (quinoid dihydropteridine reductase). PHENOTYPE: A portion of mice homozygous for a knock-out allele display abnormal rib-sternum attachment, a split xiphoid process, and lumbar vertebral transformation. Another knock-out allele exhibits abnormal folate and biopterin metabolism and oxidative stress in the liver. [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
