Gene: [10q11/ERCC6] excision repair cross-complementing rodent repair deficiency, complementation group 6; Cockayne syndrome B protein; Cockayne syndrome 2 (late onset form B); [CKN2 CSB ]


GEN

The gene length is about 100 kb.

REL

See GEM:19q133/ERCC1.

REF

ABR "Fryns JP &: Am J Med Genet, 40, 343-344, 1991
FUN "Henning KA &: Cell, 82, N4, 555-564, 1995
PRO,LOC,MOL,FAG "Hoeijmakers &: CCG, 51, (HGM10), 1014, 1989
FUN "Lehmann AR &: J Med Genet, 30, N8, 679-682, 1993
MUT "Mallery DL &: AJHG, 62, N1, 77-85, 1998

SWI

 SWISSPROT: Q03468

KEY

repr, nucm, neu, devd

CLA

coding, basic

LOC

10 q11

MIM

 MIM: 133540

SYN

CKN2 CSB

Смотрите также:

  • Синдром Коккейна (CS)
  • Gene: [05^/CKN1] Cockayne syndrome A protein (WD-repeat protein); Cockayne syndrome 1 (classical form A); [CSA ]
  • HUGEN-ERCC6
  • HUGEN-CSB