Analysis of CYP27B1, encoding 25-hydroxyvitamin D-1alpha-hydroxylase, as a candidate tumor suppressor gene in primary and severe secondary/tertiary hyperparathyroidism.

ABSTRACT: CYP27B1, encoding 25-hydroxyvitamin D-1alpha-hydroxylase, converts 25-hydroxyvitamin D to its active form, 1,25-dihydroxyvitamin D, and is expressed primarily in the kidney but also in nontraditional sites including the parathyroid glands. Whereas the role of locally produced 1,25-dihydroxyvitamin D is not yet clear, it is possible that it contributes importantly to vitamin D-mediated inhibition of parathyroid cell growth, so CYP27B1 can be considered a candidate parathyroid tumor suppressor gene in that its acquired inactivation in a parathyroid cell could confer a tumorigenic growth advantage. Expression of CYP27B1 has also been reported to be altered in parathyroid neoplasms. Because detection of inactivating mutations is the central criterion for validating a candidate tumor suppressor

SUBMITTER: Lauter K 

PROVIDER: S-EPMC2689078 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature