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ERCC5 excision repair cross-complementing rodent repair deficiency, complementation group 5 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000123 Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 5 (ERCC5), mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Related Services

Gene Symbol ERCC5
Entrez Gene ID 2073
Full Name excision repair cross-complementing rodent repair deficiency, complementation group 5
Synonyms COFS3, ERCM2, UVDR, XPG, XPGC
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

13

13q33

Summary This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011].
Disorder

MIM: 133530

Xeroderma pigmentosum, group G, 278780 (3); Cerebrooculofacioskeletal

mRNA Protein Product Sequence Price Select
NM_000123, 324715039 NP_000114, 51988900 DNA repair protein complementing XP-G cells ORF Sequence $1500.00
KEGG
hsa03420Nucleotide excision repair
Reactome
REACT_257Formation of incision complex in GG-NER
REACT_1941Formation of transcription-coupled NER (TC-NER) repair complex
REACT_2253Global Genomic NER (GG-NER)
REACT_2222Dual incision reaction in TC-NER
REACT_311Dual incision reaction in GG-NER
REACT_216DNA Repair
REACT_1628Transcription-coupled NER (TC-NER)
REACT_1826Nucleotide Excision Repair
Homo sapiens (human)ERCC5NP_000114.2
Pan troglodytes (chimpanzee)ERCC5XP_003314253.1
Macaca mulatta (Rhesus monkey)ERCC5XP_001096257.2
Canis lupus familiaris (dog)LOC100855935XP_003639860.1
Bos taurus (cattle)ERCC5NP_001030353.1
Mus musculus (house mouse)Ercc5NP_035859.2
Rattus norvegicus (Norway rat)Ercc5NP_001100380.1
Gallus gallus (chicken)ERCC5NP_001029995.1
Danio rerio (zebrafish)ercc5XP_003197653.1
Drosophila melanogaster (fruit fly)Chrac-14NP_001027230.1
GeneCards ERCC5
UniProt P28715
MIM 133530
Ensembl ENSG00000134899
HGNC 3437
HPRD 00595

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
DNA repair protein complementing XP-G cells
Names
DNA repair protein complementing XP-G cells
XPG-complementing protein
DNA excision repair protein ERCC-5
xeroderma pigmentosum, complementation group G

Interactant



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