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

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