PHPT1
Description
The PHPT1 (phosphohistidine phosphatase 1) is a protein-coding gene located on chromosome 9.
PHPT1 is a gene in humans that encodes for the 14 kDa phosphohistidine phosphatase enzyme.
PHPT1 exhibits phosphohistidine phosphatase activity.
PHPT1 is also known as CGI-202, HEL-S-132P, HSPC141, PHP, PHP14.
Associated Diseases
- hyperinsulinism due to glucokinase deficiency
- hyperinsulinism due to INSR deficiency
- type 2 diabetes mellitus
- exercise-induced hyperinsulinism
- type 1 diabetes mellitus
- hyperinsulinism-hyperammonemia syndrome
- diabetes mellitus, transient neonatal, 2
- hyperinsulinemic hypoglycemia, familial, 2
- hypoinsulinemic hypoglycemia and body hemihypertrophy
- hyperinsulinemic hypoglycemia, familial, 1
- islet cell adenomatosis
- hyperinsulinemic hypoglycemia, familial, 4
- short stature due to partial GHR deficiency
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- renal cysts and diabetes syndrome
- GCGR-related hyperglucagonemia
- obesity due to melanocortin 4 receptor deficiency
- glycogen storage disorder due to hepatic glycogen synthase deficiency
- phosphoenolpyruvate carboxykinase deficiency, mitochondrial
