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: UNIPROT:P01185 (
vasopressin
)
23,126
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Non-synonymous mutations affecting both alleles of
PCSK1
(proprotein convertase 1/3) are associated with obesity and impaired prohormone processing. We report a proband who was compound heterozygous for a maternally inherited frameshift mutation and a paternally inherited 474kb deletion that encompasses
PCSK1
, representing a novel genetic mechanism underlying this phenotype. Although pro-
vasopressin
is not a known physiological substrate of
PCSK1
, the development of central diabetes insipidus in this proband suggests that
PCSK1
deficiency can be associated with impaired osmoregulation.
...
PMID:Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency. 2380 Jun 42
