| Primary Identifier | MGI:95675 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 14528 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables GTP cyclohydrolase I activity. Involved in positive regulation of heart rate. Acts upstream of or within regulation of lung blood pressure. Predicted to be located in several cellular components, including cytosol; mitochondrion; and nucleus. Predicted to be part of protein-containing complex. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study BH4-deficient hyperphenylalaninemia B. Human ortholog(s) of this gene implicated in several diseases, including BH4-deficient hyperphenylalaninemia B; diabetic angiopathy; movement disease (multiple); sickle cell anemia; and type 2 diabetes mellitus. Orthologous to human GCH1 (GTP cyclohydrolase 1). PHENOTYPE: Mice homozygous for a null mutation display bradycardia, reduced L-DOPA levels and embryonic lethality during organogenesis. [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
