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MOLECULAR BIOLOGY OF STEROIDOGENIC P450 ENZYMES

MOLECULAR BIOLOGY OF STEROIDOGENIC P450 ENZYMES
甾体生成酶 P450 的分子生物学
批准号：
2634207
负责人：
WALTER L. MILLER
金额：
$28.11万
依托单位：
UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
依托单位国家：
美国
项目类别：
财政年份：
1987
资助国家：
美国
项目状态：
已结题
起止时间：
1987-05-01 至 2000-12-31
来源：
https://reporter.nih.gov/project-details/2634207
关键词：
adrenal hyperplasia congenital disorders cytochrome P450 gene mutation genetic promoter element human genetic material tag lyase oxidoreductase steroid metabolism disorder tenascin

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中文摘要
翻译
描述（改编自申请人的摘要）：在目标1中
英文摘要
DESCRIPTION (Adapted from the applicant's abstract): In Aim 1, the applicant proposes to determine the functional anatomy of the TNX gene by characterizing its patterns of alternate mRNA splicing and identifying its various alternate tissue specific cap sites. In Aim 2, which is mostly new, the biological function of this protein will be studied by examining its pattern of expression and its effects on cellular adhesion. An attempt will be made to identify patients with deletions of TNX. Aim 3 will characterize a putative adrenal specific enhancer element located 6 kb away from CYP21 and the nuclear proteins that interact with this element. Finally, additional mutations will be characterized that cause 3 adrenal disorders: lipoid adrenal hyperplasia; 17,20 lyase deficiency; and corticosterone methyloxidase (aldosterone synthase deficiency). An Aim in the previous submission on genetics of hypertension has been deleted.
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