Categories: Homeostasis / metabolism phene

Possible human homologues (MIM numbers): 215700 (trait) , 603470 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0008988: citrullinemia type I

Cross-species summary: The clinical signs of this disorder result from ammonia poisoning, due to a fault in the urea cycle. This cycle is the biochemical process by which potentially toxic ammonia (a by-product of catabolism of proteins) is converted to urea, which is excreted in urine. The fault in the cycle arises from a deficiency of one of the enzymes involved in the cycle, namely argininosuccinate synthetase (ASS). The absence of this enzyme leads to a buildup of citrulline and, more seriously, of ammonia.

Species in which this phene is found:
taurine cattle (Bos taurus)
indicine cattle (zebu) (Bos indicus)