Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans.

@article{Katsumata2002CompoundHM,
  title={Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans.},
  author={Noriyuki Katsumata and Masatoshi Ohtake and Toru Hojo and Eishin Ogawa and Takayuki Hara and Naoko Saito Sato and Toshiaki Tanaka},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2002},
  volume={87 8},
  pages={3808-13}
}
Cholesterol side-chain cleavage enzyme (P450scc) catalyzes the conversion of cholesterol to pregnenolone in mitochondria, which is the first step in the biosynthesis of all steroid hormones. Until now, no homozygous or compound heterozygous mutations in CYP11A have been described in humans. Here we describe novel compound heterozygous mutations in CYP11A in… CONTINUE READING