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ERCC5

ERCC5

Protein-coding gene in the species Homo sapiens

complementing XP-G cells is a protein that in humans is encoded by the ERCC5 gene. Excision repair cross-complementing rodent repair deficiency, complementation

ERCC5

Nucleotide excision repair

DNA repair mechanism

corresponding proteins include ERCC1(ERCC1), ERCC2(XPD), ERCC3(XPB), ERCC4(XPF), ERCC5 (XPG), ERCC6(CSB) and ERCC8(CSA). DNA repair-deficient ERCC1 mutant mice

Nucleotide excision repair

Nucleotide_excision_repair

Xeroderma pigmentosum

Medical condition multisystem disorder

during NER at the 3' side of the damaged nucleotide. Mutations in the XPG (ERCC5) gene can lead to XP alone, or in combination with Cockayne syndrome (CS)

Xeroderma pigmentosum

Xeroderma_pigmentosum

Microphthalmia

Birth defect of the eye

C12orf57 CC2D2A CHD7 CLDN19 COX7B CRIM1 CRYAA CRYBA4 CRYBB2 DHX38 DPYD ERCC1 ERCC5 FADD FAM111A FNBP4 FOXL2 FRAS1 FREM1 FREM2 FZD5 GDF3 GDF6 GJA1 GRIP1 HCCS

Microphthalmia

DNA damage theory of aging

Hypothesis that aging is caused by accumulated DNA damage

cerebral atrophy ERCC5 (XPG) Nucleotide excision repair, Homologous recombinational repair, Base excision repair mice with deficient ERCC5 show loss of subcutaneous

DNA damage theory of aging

DNA_damage_theory_of_aging

Progeroid syndromes

Range of genetic disorders which cause a person to appear to grow older faster

be caused by mutations in any of these genes: DDB2, ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC. These genes are all involved in the NER repair pathway that repairs

Progeroid syndromes

Progeroid_syndromes

DNA repair-deficiency disorder

Medical condition

cerebral atrophy ERCC5 (XPG) Nucleotide excision repair, Homologous recombinational repair, Base excision repair mice with deficient ERCC5 show loss of subcutaneous

DNA repair-deficiency disorder

DNA_repair-deficiency_disorder

ERCC2

Mammalian protein found in humans

DNA damage in nerve cells as well. ERCC2 has been shown to interact with: ERCC5, GTF2H1, GTF2H2, and XPB. Click on genes, proteins and metabolites below

ERCC2

List of OMIM disorder codes

pigmentosum group F; 278760; ERCC4 Xeroderma pigmentosum group G; 278780; ERCC5 Xeroderma pigmentosum, variant type; 278750; POLH XFE progeroid syndrome;

List of OMIM disorder codes

List_of_OMIM_disorder_codes

RNA polymerase II holoenzyme

Form of eukaryotic RNA polymerase II

transcription factor 2 (TFIIH) and, thus, functions in class II transcription. XPG (ERCC5) forms a stable complex with TFIIH, which is active in transcription and

RNA polymerase II holoenzyme

RNA_polymerase_II_holoenzyme

Excision repair cross-complementing

cognitive impairment, or more. The main genes involved are ERCC2, ERCC4, and ERCC5, as they're responsible for specific XP complementation groups. Mutations

Excision repair cross-complementing

Excision_repair_cross-complementing

Pulmonary atresia with ventricular septal defect

Type of congenital heart defect

CHD in smoker mothers who carry genetic variations in them include ERCC1, ERCC5, PARP2, and OSGEP. There are various ways of diagnosing this congenital

Pulmonary atresia with ventricular septal defect

Pulmonary_atresia_with_ventricular_septal_defect

List of human protein-coding genes 3

HGNC:3434; P18074 5058 ERCC3 HGNC:3435; P19447 5059 ERCC4 HGNC:3436; Q92889 5060 ERCC5 HGNC:3437; P28715 5061 ERCC6 HGNC:3438; P0DP91, Q03468 5062 ERCC6L HGNC:20794;

List of human protein-coding genes 3

List_of_human_protein-coding_genes_3