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Reference #:
2004-274
Inventors/Contributors
Richard M. Weinshilboum, M.D., Oreste Ezequiel Salavaggione, M.D., Linda L. Pelleymounter, Eric D. Wieben, Ph.D.
Description
Substrates include pregnenolone, 17-hydroxypregnenolone (17-OH-Preg), dehydroepiandrosterone (DHEA) and androst-5-ene-3-B,17B-diol. Tissue specificity includes the placenta and skin but it is predominantly expressed in mammary gland tissue. Subcellularly, it is located in the endoplasmic reticulum and the mitochondrial membrane. Congenital deficiency of 3 beta HSD activity causes severe depletion of steroid formation frequently lethal in early life. The classical form of this disease includes the association of severe salt-losing adrenal insufficiency and ambiguity of external genitalia in both sexes. Novel non-synonymous cSNPs have been identified and their functional relevancy is being determined. Novel polymorphisms and common haplotypes for Caucasian American, African American, Han Chinese and Mexican American populations have been identified.
Patent Status
None |
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