xeroderma pigmentosum group F

Summary
Synonym
  • XP group F
  • XP6
  • XPF
  • xeroderma pigmentosum VI
Definition
A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.
Super Class
xeroderma pigmentosum
External Links
Disease Ontology
DOID:0110848
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 10 entries
Gene ID Gene Symbol Description Source
847 CAT catalase
1312 COMT catechol-O-methyltransferase
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
4968 OGG1 8-oxoguanine DNA glycosylase
5728 PTEN phosphatase and tensin homolog
6888 TALDO1 transaldolase 1
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
27306 HPGDS hematopoietic prostaglandin D synthase
64132 XYLT2 xylosyltransferase 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024