ERCC1 Chromosome 19
ERCC excision repair 1, endonuclease non-catalytic subunit
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What This Gene Does
The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
ERCC excision repair associated
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000012061
Associated Conditions (8)
Cerebrooculofacioskeletal syndrome 4
ERCC1-related disorder
Global proximal tubulopathy
Cholestatic liver disease
Failure to thrive
Premature ovarian insufficiency
Cutaneous photosensitivity
Cockayne syndrome
Key Variants
RS142631483
Conflicting classifications of pathogenicity
Cerebrooculofacioskeletal syndrome 4, Cerebrooculofacioskeletal syndrome 4
Health Risk
RS3212977
Conflicting classifications of pathogenicity
Cerebrooculofacioskeletal syndrome 4, ERCC1-related disorder, Cerebrooculofacioskeletal syndrome 4
Health Risk
RS757369063
Conflicting classifications of pathogenicity
Global proximal tubulopathy, Cholestatic liver disease, Failure to thrive
Health Risk
RS1454398092
Likely pathogenic
Health Risk
RS149666093
Likely pathogenic
Health Risk
RS150584960
Likely pathogenic
Cerebrooculofacioskeletal syndrome 4, Cerebrooculofacioskeletal syndrome 4
Health Risk
RS2123520960
Likely pathogenic
Cerebrooculofacioskeletal syndrome 4, Cerebrooculofacioskeletal syndrome 4
Health Risk
RS749328536
Likely pathogenic
Health Risk
RS750062887
Likely pathogenic
Health Risk
RS121913027
Pathogenic
Cerebrooculofacioskeletal syndrome 4, Cerebrooculofacioskeletal syndrome 4
Health Risk
RS121913028
Pathogenic
Cerebrooculofacioskeletal syndrome 4, Cockayne syndrome, Cerebrooculofacioskeletal syndrome 4
Health Risk
RS1555787722
Pathogenic
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142631483 | Health Risk | Conflicting classifications of pathogenicity | Cerebrooculofacioskeletal syndrome 4, Cerebrooculofacioskeletal syndrome 4 |
| RS3212977 | Health Risk | Conflicting classifications of pathogenicity | Cerebrooculofacioskeletal syndrome 4, ERCC1-related disorder, Cerebrooculofacioskeletal syndrome 4 |
| RS757369063 | Health Risk | Conflicting classifications of pathogenicity | Global proximal tubulopathy, Cholestatic liver disease, Failure to thrive |
| RS1454398092 | Health Risk | Likely pathogenic | — |
| RS149666093 | Health Risk | Likely pathogenic | — |
| RS150584960 | Health Risk | Likely pathogenic | Cerebrooculofacioskeletal syndrome 4, Cerebrooculofacioskeletal syndrome 4 |
| RS2123520960 | Health Risk | Likely pathogenic | Cerebrooculofacioskeletal syndrome 4, Cerebrooculofacioskeletal syndrome 4 |
| RS749328536 | Health Risk | Likely pathogenic | — |
| RS750062887 | Health Risk | Likely pathogenic | — |
| RS121913027 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 4, Cerebrooculofacioskeletal syndrome 4 |
| RS121913028 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 4, Cockayne syndrome, Cerebrooculofacioskeletal syndrome 4 |
| RS1555787722 | Health Risk | Pathogenic | — |
| RS867518898 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 4, Cerebrooculofacioskeletal syndrome 4 |