HERC6
Description
The HERC6 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 6) is a protein-coding gene located on chromosome 4.
HERC6 acts as an E3 ubiquitin ligase, receiving ubiquitin from an E2 enzyme through a thioester bond. It then directly attaches this ubiquitin to specific target proteins.
HERC6 is also known as -.
Associated Diseases
- linear and whorled nevoid hypermelanosis
- eosinophil peroxidase deficiency
- macrothrombocytopenia, isolated, 2, autosomal dominant
- beta-thalassemia-X-linked thrombocytopenia syndrome
- thrombocytopenia 4
- X-linked sideroblastic anemia 1
- neutropenia, severe congenital, 1, autosomal dominant
- thrombocytopenia 2
- thrombocytopenia 7
- thrombocythemia 2
- platelet-type bleeding disorder 9
- autosomal dominant macrothrombocytopenia
- ichthyosis prematurity syndrome
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
- neutropenia, severe congenital, 2, autosomal dominant
- monosomy 7 myelodysplasia and leukemia syndrome 1
- monosomy 7 myelodysplasia and leukemia syndrome 2
