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Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light. [1] Symptoms may include a severe sunburn after only a few minutes in the sun, freckling in sun-exposed areas, dry skin and changes in skin pigmentation. [1]
XP is caused by a homozygous deficiency in UV DNA damage repair (GG-NER) which increases the patients' risk of skin cancer by 1000-fold. In heterozygous patients, the risk of cancer is sporadic but can be predicted based on analytical assessment of polymorphisms in XP related DNA repair genes purified from lymphocytes. [15]
22590 Ensembl ENSG00000136936 ENSMUSG00000028329 UniProt P23025 Q64267 RefSeq (mRNA) NM_000380 NM_011728 RefSeq (protein) NP_000371 NP_001341904 NP_035858 Location (UCSC) n/a Chr 4: 46.16 – 46.2 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse DNA repair protein complementing XP-A cells is a protein that in humans is encoded by the XPA gene. Function Nucleotide excision repair (NER ...
2073 22592 Ensembl ENSG00000134899 ENSMUSG00000026048 UniProt P28715 P35689 RefSeq (mRNA) NM_000123 NM_011729 RefSeq (protein) NP_000114 n/a Location (UCSC) Chr 13: 102.85 – 102.88 Mb Chr 1: 44.19 – 44.22 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse DNA repair protein complementing XP-G cells is a protein that in humans is encoded by the ERCC5 gene. Function Excision repair ...
2072 50505 Ensembl ENSG00000175595 ENSMUSG00000022545 UniProt Q92889 Q9QZD4 RefSeq (mRNA) NM_005236 NM_015769 RefSeq (protein) NP_005227 NP_056584 Location (UCSC) Chr 16: 13.92 – 13.95 Mb Chr 16: 12.93 – 12.97 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse ERCC4 is a protein designated as DNA repair endonuclease XPF that in humans is encoded by the ERCC4 gene. Together with ...
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This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER ...