ARG1

Gene product: arginase 1.

Protein function: Arginase participates in the last step of the urea cycle and can catalyze the hydrolysis of arginine to ornithine and urea.

Phenotype: Argininemia (AR) [1]。

Mutation database:  ClinVar.

References:

1. Uchino, T., et al., Molecular basis of phenotypic variation in patients with argininemia. Hum Genet, 1995. 96(3): p. 255-60.