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xeroderma pigmentosum group A
Summary
- Synonym
-
- XP group A
- XP1
- XPA
- xeroderma pigmentosum 1
- xeroderma pigmentosum complementation group A
- Definition
- A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22.
- Super Class
- xeroderma pigmentosum
External Links
- Disease Ontology
- DOID:0110843
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 847 | CAT | catalase | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 1543 | CYP1A1 | cytochrome P450 family 1 subfamily A member 1 | |
| 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 | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 6888 | TALDO1 | transaldolase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H1B5 | Xylosyltransferase 2 |
