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Gene: ERCC6 (ERCC excision repair 6, chromatin remodeling factor) Homo sapiens
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Symbol: ERCC6
Name: ERCC excision repair 6, chromatin remodeling factor
Description: Exhibits several functions, including ATP binding activity; protein C-terminus binding activity; and protein tyrosine kinase activator activity. Involved in several processes, including DNA repair; positive regulation of macromolecule metabolic process; and regulation of double-strand break repair. Localizes to the nuclear lumen and site of DNA damage. Implicated in Cockayne syndrome; UV-sensitive syndrome; age related macular degeneration 5; lung cancer; and premature ovarian failure. Biomarker of macular degeneration.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARMD5; ATP-dependent helicase ERCC6; CKN2; Cockayne syndrome B protein; Cockayne syndrome group B protein; cockayne syndrome protein CSB; COFS; COFS1; CSB; CSB-PGBD3; DNA excision repair protein ERCC-6; ERCC6-PGBD3 fusion protein (isoform 1); excision repair cross-complementation group 6; excision repair cross-complementing rodent repair deficiency, complementation group 6; POF11; RAD26; Rad26 homolog; UVSS1
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1049,454,470 - 49,539,538 (-)Ensembl
GRCh381049,454,470 - 49,539,538 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371050,662,526 - 50,747,169 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361050,336,715 - 50,417,078 (-)NCBINCBI36hg18NCBI36
Build 341050,336,714 - 50,417,078NCBI
Celera1044,250,656 - 44,333,241 (-)NCBI
Cytogenetic Map10q11.23NCBI
HuRef1044,927,342 - 45,011,950 (-)NCBIHuRef
CHM1_11050,944,706 - 51,029,689 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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References - uncurated

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Comparative Map Data
Position Markers
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Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ERCC6
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1323005
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-12-31
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.