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

Смотрите также:

  • Эксцизионная репарация нуклеотидов (ЭРН) у человека
  • Пигментная ксеродерма (ХР)
  • Эксцизионная репарация нуклеотидов (ЭРН, NER): генетика
  • XPA Белки