ERCC excision repair 6, chromatin remodeling factor

Summary
Gene Symbol
  • ERCC6
Organism
Homo sapiens (human)
NCBI Gene
2074
PubChem
2074
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Age-related macular degeneration
  • Alternative splicing
  • Cataract
  • Cockayne syndrome
  • DNA repair
  • DNA-binding
  • Deafness
  • Disease variant
  • Dwarfism
  • Helicase
  • Intellectual disability
  • Isopeptide bond
  • Methylation
  • Neurogenesis
  • Nucleus
  • Phosphoprotein
  • Premature ovarian failure
  • Reference proteome
  • Transcription regulation
  • Ubl conjugation
  • Xeroderma pigmentosum
Proteins
Displaying all 4 entries
UniProt Protein Name
P0DP91
  • Chimeric CSB-PGBD3 protein
Q03468
  • ATP-dependent helicase ERCC6
  • Cockayne syndrome protein CSB
A8K4Q3
Q59FF6
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying entries 1 - 10 of 20 in total
DO ID Disease Name Source
DOID:0050861 colorectal adenocarcinoma
DOID:0060240 UV-sensitive syndrome
DOID:0080199 colorectal carcinoma
DOID:0080868 primary ovarian insufficiency 11
DOID:0080908 Cockayne syndrome B
DOID:0080911 cerebrooculofacioskeletal syndrome 1
DOID:0110028 age related macular degeneration 5
DOID:0112158 De Sanctis-Cacchione syndrome
DOID:10534 stomach cancer
DOID:1324 lung cancer

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024