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FLASH GENE

Symbol

ERCC3

contributors: mct/pgu - updated : 30-08-2015

HGNC name	excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)
HGNC id	3435

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

XPB , TTDP2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       decreasing GTF2H activity in XPB patients tumoral     --low   in sqamous cell carcinoma of the head and neck constitutional       loss of function associated with non-pigmented hair fiber growth constitutional       loss of function in functional ERCC3 paradoxically renders cells more sensitive to the genotoxic effects of oxidative stress while reducing the cytotoxic effects

Susceptibility

for TTDA (trichothiodystrophy type A)

Variant & Polymorphism	genetic variation of ERCC3 may contribute to benzene-induced haemotoxicity at relatively low levels of benzene exposure

Candidate gene	influences recruitment and redistribution of NER proteins at sites of UV-induced DNA damage and thus may contribute to the markedly increased frequency of skin cancer in XP patients
Marker
Therapy target

ANIMAL & CELL MODELS