Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0020538 (
hypertension
)
170,190
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The HSD11B2 and
VPATPD
genes encoding the human kidney isozyme of 11beta-hydroxysteroid dehydrogenase (11-HSD2) and subunit D of the vacuolar proton ATPase, respectively, are located on chromosome 16q22. They are transcribed from complementary DNA strands and their 3' ends are only 0.5 kilobase apart. Because polymorphisms in HSD11B2 have been associated with
hypertension
and salt sensitivity, we characterized the human
VPATPD
gene. It spans 19 kb and consists of 8 exons. The encoded protein is 99.5% identical to mouse subunit D at the amino acid level. An alternating purine-pyrimidine tract is located in the 3'-untranslated region of
VPATPD
. On genotyping 17 hypertensive subjects, no length polymorphism was found. Although
VPATPD
and HSD11B2 are both expressed in kidney and placenta, they are regulated differently; forskolin upregulates HSD11B2 but not
VPATPD
in human choriocarcinoma JEG3 cells. The functional significance of the proximity of these two genes remains to be established.
...
PMID:Structure of the VPATPD gene encoding subunit D of the human vacuolar proton ATPase. 1111 22
