Gene: ERCC8

Alternate names for this Gene: CKN1|CSA|UVSS2

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q12.1

Description of this Gene: ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Type of Gene: protein-coding

Gene: NDUFAF2

Alternate names for this Gene: B17.2L|MC1DN10|MMTN|NDUFA12L|mimitin

Gene Summary: NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency.

Gene is located in Chromosome: 5

Location in Chromosome : 5q12.1

Description of this Gene: NADH:ubiquinone oxidoreductase complex assembly factor 2

Type of Gene: protein-coding

rs121434324 in ERCC8;NDUFAF2 gene and Cockayne Syndrome, Type I PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

rs1554076309 in ERCC8;NDUFAF2 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 PMID 20571988 2010 Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.