Molybdenum cofactor sulfurase

Yamamoto, T., Moriwaki, Y., Takahashi, S., Tsutsumi, Z., Tuneyoshi, K., Matsui, K., Cheng, J., and Hada, T. (2003) Identification of a new point mutation in the human molybdenum cofactor sulfurase gene that is responsible for xanthinuria type II. Metab. Clin. Exp. 52 (11), 1501-1504. 

Peretz, H., Naamati, M. S., Levartovsky, D., Lagziel, A., Shani, E., Horn, I., Shalev, H., and Landau, D. (2007) Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the human molybdenum cofactor sulfurase (HMCS) associated with type II classical xanthinuria. Mol. Genet. Metab. 91 (1), 23-29. 

Mutation of the human molybdenum cofactor sulfurase gene seems to be responsible for classical xanthinuria type II (Ichida et al. 2001). A mutation in the gene for the neurotransmitter receptor-dustering protein gephyrin may cause a novel form of molybdenum cofactor deficiency (Reiss et al. 2001)... 

---