Gene: [19q133/ERCC2] excision repair cross-complementing rodent repair deficiency, complementation group 2; xeroderma pigmentosum, complementation group D (MIM:278730); trichothiodystrophy (ichthyosiform erytroderma) (MIM:601675); [XPD TTD ]


FUN

The product of ERCC2 gene is supposed (Weber-1990) to possess ATP-dependent helicase and single-stranded-DNA-dependent ATPase activities. The reason for this supposition is the 51.7% homology between the ERCC2 peptide and yeast protein RAD3."

EXP

In the course of the studies on the gene cloning, it was shown (Weber-1990) that existence of the lengthy 5'-flanking sequence is important for its stable expression."

LIN

Loci: GEM:19q133/ERCC1; GEM:19q133/CKM.
[1] See GEM:19q133/CKM."

MAP

Loci: GEM:19q132/APOE; GEM:19q132/APOC1P1; GEM:19q132/APOC2; GEM:19q133/CKM; GEM:19q133/ERCC1; GEM:19q132/APOC1; GEM:19q133/DMPK.
[1] See GEM:19q132/APOC1."

REF

LIN,MAP "Bachinski &: CCG, 51, (HGM10), 954-955, 1989
LOC,CYG "Siciliano &: CCG, 46, (HGM9), 691-692, 1987
LOC,CYG "Siciliano &: CCG, 40, (HGM8), 744-745, 1985
LIN,MAF "Smeets H &: AJHG, 46, N3, 492-501, 1990
LIN,MAP "Smeets H &: CCG, 51, (HGM10), 1081, 1989
CLO,COD,SEQ,EVO "Weber &: EMBO J, 9, N5, 137-147, 1990

KEY

repr, derm

CLA

coding, basic

LOC

19 q13.3

MIM

MIM: 126340

SYN

XPD TTD

Смотрите также:

  • Эксцизионная репарация нуклеотидов (ЭРН) у человека
  • Пигментная ксеродерма (ХР)
  • Эксцизионная репарация нуклеотидов (ЭРН, NER): генетика
  • Gene: [01q4/XPA1] xeroderma pigmentosum, complementation group A1; fast complementation DNA repair in xeroderma (group A1); [XPA XP1 XPAC ]
  • Синдром Коккейна (CS)
  • Гены кросс-комплементирующие эксцизионной репарации (ERCC)
  • Трихотиодистрофия (ТТD)
  • HUGEN-ERCC2