ERCC8 (Gene)

Synonyms:CKN1, CSA, ENTREZ:1161, ERCC excision repair 8, CSA ubiquitin ligase complex subunit, ERCC8, HGNC:3439, MIM:609412, NM_000082, NM_001007233, NM_001007234, NM_001290285, NP_000073, NP_001007234, NP_001007235, NP_001277214, UVSS2
Omim:OMIM:609412
Id:ENSG00000049167
Hgnc:HGNC:3439
Entrez:1161
Description:ERCC excision repair 8, CSA ubiquitin ligase complex subunit
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View ERCC8's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with ERCC8.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using ERCC8.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for ERCC8.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with ERCC8.

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