Gene: [01q4/XPA1] xeroderma pigmentosum, complementation group A1; fast complementation DNA repair in xeroderma (group A1); [XPA XP1 XPAC ]
FUN | The repair protein XPA is a factor that associates with ERCC1 (GEM:19q133/ERCC1; Li-1994). A possible function of XPA, suggested by their results, is the loading and possible orientation of an incision complex, containing ERCC1 and other repair factors, to the site of DNA damage. Park and Sancar (Park-1994) presented the results of studies leading them to conclude that XPA, ERCC1 (GEM:19q133/ERCC1), and ERCC4 (GEM:16p1313/ERCC4) proteins form a ternary complex that participates in both damage recognition and incision activities." |
MOP | The fast kinetics is characteristic for the complementation. |
HET | [1] A similar, in the clinical genetic aspect, mutation was
shown to occur in a gene in Chr 9q (see GEM:09q223/XPA2). This suggests that the genetic
heterogeneity exists in complementation group A of reparation mutation in
xeroderma, and there are possibly two or three complementation groups of A
type. In general, the MIM catalogue includes about ten xeroderma
pigmentosum types, however, only three of them are mapped more or less
definitely (these are, besides the given type, XPA2 in Chr 9 and F type in
Chr 16, see GEM:16p1313/ERCC4). In
addition, D type has been mapped to Chr 19q (GEM:19q133/ERCC2). [2] In addition to reparation mutations related with various types of xeroderma pigmentosum, several similar mutations are known that are not associated with this pathology (see GEM:19q133/ERCC1)." |
REL | GEM:03p251/XPC. |
REF | LOC,CYG
"Henning KA &: Somat Cell Mol Genet, 16, 395-400, 1990 COM,LOC,CYG,MEB "Keijzer W &: Exp Cell Res, 169, 490-501, 1987 COM,LOC,CYG,MEB "Keijzer W &: CCG, 37, (HGM7), 508, 1984 PHE "Keijzer W &: Exp Cell Res, 140, 119-125, 1982 REV,PAT,PHE "Kraemer W &: Arch Derm, 123, 241-250, 1987 EXP,FUN,MOP "Li L &: PNAS, 91, 5012-5016, 1994 PEP,MOP,FUN "Park C-H, Sancar A: PNAS, 91, 5017-5021, 1994 |
SWI | SWISSPROT: P23025 |
KEY | derm, neu, repr |
CLA | coding, basic |
LOC | 01 q42-t |
MIM | MIM: 278700 |
SYN | XPA XP1 XPAC |
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