Gene: [16p1313/ERCC4] excision repair cross-complementing rodent repair deficiency, complementation group 4; xeroderma pigmentosum, complementation group F (MIM:278760); [XPF ]
COM | Liu-1993 assigned the ERCC4 gene Chr 16p13.2-.13. Doggett-1995 refined the location to Chr 16p13.13. Saxon-1989 assigned the XPF gene to Chr 15. By fluorescence in situ hybridization, Sijbers-1996 mapped the XPF gene to Chr 16p13.2-.1. They demonstrated that the XPF protein is the same as ERCC4." |
REL | GEM:19q133/ERCC1. |
REF | LOC "Doggett NA &: CCG, 68, N3-4, 165-184, 1995 LOC "Liu P &: Mutagenesis, 8, N3, 199-205, 1993 IDN,LOC,CYG "Liu P &: CCG, 51, (HGM10), 1035, 1989 LOC,CYG "Saxon PJ &: AJHG, 44, 474-485, 1989 IDN,LOC,CYG "Siciliano MJ &: CCG, 46, (HGM9), 691-692, 1987 LOC,MUT "Sijbers AM &: Cell, 86, N5, 811-822, 1996 CLO "Thompson LH &: PNAS, 91, N15, 6855-6859, 1994 |
SWI | SWISSPROT: Q92889 |
KEY | repr, derm |
CLA | coding, basic |
LOC | 16 p13.13 |
MIM | MIM: 133520 |
SYN | XPF |
Ссылки:
- Эксцизионная репарация нуклеотидов (ЭРН) у человека
- Пигментная ксеродерма (синдром пигментной ксеродермы, XP)
- ЭРН (NER) Эксцизионная репарация нуклеотидов: генетика и болезни
- Gene: [01q4/XPA1] xeroderma pigmentosum, complementation group A1; fast complementation DNA repair in xeroderma (group A1); [XPA XP1 XPAC ]