Categories: Homeostasis / metabolism phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 207800 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: Deficiency of the enzyme arginase in red blood cells. The enzyme's normal task is to convert arginine to ornithine and urea

Species-specific description: Homozygotes for the deficiency have zero levels of arginase; heterozygotes appear to have somewhat lower levels than homozygote normals (Wright et al., 1977). In contrast to humans, deficient sheep show no clinical signs, despite having elevated levels of arginine in red blood cells.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing