This topic will be of interest to some of you. The human cytochrome P450 gene encoding CYP4A22 has been well studied for more than two decades (Pharmacogenetics 2004; 14: 1-18), but is shown here to have a (previously undiscovered) role in preventing vitamin-D-dependent rickets (VDDR).
CYP4A22See the attached article. A nonsense mutation in the CYP4A22 gene was found in a Chinese pedigree exhibiting vitamin D–dependent rickets and low serum phosphate. The CYP4A22 enzyme protein localizes in the endoplasmic reticulum and Golgi apparatus, and processes 25-hydroxylase activity in liver cells. CYP4A22 loss-of-function (LoF) results in lowered synthesis of 25(OH)D3, which causes genetic compensation of CYP2R1 (which is another enzyme involved in 25(OH)D3 formation).
Hence, our review from a decade ago can now be updated, by adding CYP4A22 :