Types
There are seven complementation groups, plus one variant form:
Type | Diseases Database | OMIM | Gene | Locus | Also known as/Description |
Type A, I, XPA | 29877 | 278700 | XPA | 9q22.3 | Xeroderma pigmentosum group A - the classical form of XP |
Type B, II, XPB | 29878 | 133510 | XPB | 2q21 | Xeroderma pigmentosum group B |
Type C, III, XPC | 29879 | 278720 | XPC | 3p25 | Xeroderma pigmentosum group C |
Type D, IV, XPD | 29880 | 278730 278800 | XPD ERCC6 | 19q13.2-q13.3, 10q11 | Xeroderma pigmentosum group D or De Sanctis-Cacchione syndrome (can be considered a subtype of XPD) |
Type E, V, XPE | 29881 | 278740 | DDB2 | 11p12-p11 | Xeroderma pigmentosum group E |
Type F, VI, XPF | 29882 | 278760 | ERCC4 | 16p13.3-p13.13 | Xeroderma pigmentosum group F |
Type G, VII, XPG | 29883 | 278780 133530 | RAD2 ERCC5 | 13q33 | Xeroderma pigmentosum group G and COFS syndrome type 3 |
Type V, XPV | 278750 | POLH | 6p21.1-p12 | Xeroderma pigmentosum variant - these patients suffer from mutation in a gene that codes for a specialized DNA polymerase called polymerase-η (eta). Polymerase-η can replicate over the damage and is needed when cells enter S-phase in the presence of a DNA-replication. |
Read more about this topic: Xeroderma Pigmentosum
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