USP46
Description
The USP46 (ubiquitin specific peptidase 46) is a protein-coding gene located on chromosome 4.
USP46 is a deubiquitinating enzyme that plays a role in behavior, potentially by regulating GABA action. It may achieve this by mediating the deubiquitination of GAD1/GAD67, though this is based on similarity. USP46 itself has minimal deubiquitinating activity and requires interaction with WDR48 to gain substantial activity. It's confirmed that USP46 does not participate in the deubiquitination of monoubiquitinated FANCD2.
USP46 is also known as -.
Associated Diseases
- major depressive disorder
- dehydrated hereditary stomatocytosis
- hypertriglyceridemia 2
- microcytic anemia with liver iron overload
- cholesterol-ester transfer protein deficiency
- hemoglobin D disease
- hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- neutropenia, severe congenital, 1, autosomal dominant
- hemoglobin E disease
- linear and whorled nevoid hypermelanosis
- familial pseudohyperkalemia
- homozygous familial hypercholesterolemia
- monosomy 7 myelodysplasia and leukemia syndrome 2
