| Symbol
| ERCC1
| contributors: mct/pgu - updated : 06-06-2015
|
| HGNC name
| excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
|
| HGNC id
| 3433
|
| corresponding disease(s)
|
COFS4
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
|
| --low
|
| |
in sqamous cell carcinoma of the head and neck | | tumoral
|
|
| --over
|
| |
associated to overexpression of RRM1, in early-stage non-small-cell lung cancer with excellent outcome | | tumoral
|
|
| --over
|
|
might be a favourable prognostic and a drug resistance predictive factor for non-small cell lung cancer  | | constitutional
|
|
|
| loss of function
| |
leading to downregulation of forebrain cholesterol biosynthesis genes | |
| Susceptibility
|
to melanoma to poor prognosis of non-small cell lung cancer |
| Variant & Polymorphism
other
| significant associations with the strongest associations for melanoma cases aged 50 and under |
|
ERCC1 C8092A polymorphism may influence the non-small cell lung cancer patients prognosis regardless of the ERCC1 protein expression and platinum sensitivity |
| 
|
Candidate gene
Marker
Therapy target
|
| | | |
|
| Ercc1-knockout mice, survive for up to 4 weeks after birth | |
Ercc1 deficient mice show severe growth retardation associated with premature replicative senescence leading to liver failure and death at four weeks of age |