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Details of ERCC1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| ERCC1 | --- | P07992 | ERCC1_HUMAN | 2067
| ENSG00000012061
| DNA excision repair protein ERCC-1 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) [MIM:610758]: A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry. |
610758 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
