BIVM-ERCC5

Description

The BIVM-ERCC5 (BIVM-ERCC5 readthrough) is a protein-coding gene located on chromosome 13.

ERCC5, also known as XPG, is a DNA repair endonuclease that functions in nucleotide excision repair (NER). NER is a crucial pathway responsible for removing bulky DNA lesions caused by various agents like UV radiation, chemical carcinogens, and oxidative stress. ERCC5 plays a critical role in the second step of NER, where it makes an incision on the damaged DNA strand 3' to the lesion. This incision allows for the removal of the damaged DNA segment, which is then replaced with undamaged DNA. ERCC5 is an essential component of NER, contributing to the maintenance of genomic integrity and protection against DNA damage.

ERCC5 (also known as XPG) is a DNA repair endonuclease that plays a crucial role in nucleotide excision repair (NER). NER is a major pathway for removing bulky DNA lesions, such as those caused by UV radiation, chemical carcinogens, and oxidative stress. ERCC5 is involved in the second step of NER, where it incises the damaged DNA strand 3' to the lesion. This incision allows for the removal of the damaged DNA segment and its replacement with undamaged DNA.

BIVM-ERCC5 is also known as ERCC5-202.

Associated Diseases

• dermatitis herpetiformis, familial
• primary familial polycythemia due to EPO receptor mutation
• beta-thalassemia-X-linked thrombocytopenia syndrome
• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
• alpha-thalassemia-myelodysplastic syndrome
• hemoglobin D disease
• alpha thalassemia-intellectual disability syndrome type 1
• hemoglobin E-beta-thalassemia syndrome
• bile acid malabsorption, primary, 1
• inflammatory bowel disease 30
• delta-beta-thalassemia
• hemolytic anemia due to diphosphoglycerate mutase deficiency
• dominant beta-thalassemia