Compositions and methods relating to the regulation of transport of
cholesterol into the mitochondria of a cell and, therefore, for the regulation
of steroidogenesis are provided. Compositions include nucleic acid molecules encoding
a steroidogenic acute regulatory protein (StAR), StAR protein molecules and peptides
having amino acid sequences as disclosed herein, and anti-StAR antibodies. Methods
include immunoassays using anti-StAR antibodies and nucleic acid based screening
methods for pathologies correlated with defects in StAR, such as lipoid congenital
adrenal hyperplasia and dose sensitive sex reversal. In addition, these compositions
and methods may be useful for treatment of steroid hormone-dependent disorders,
in particular, for lipoid congenital adrenal hyperplasia.
