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Results for the Protein:
P18074
119540
2068
ERCC2
NCBI
,
UniProt
ERCC2_HUMAN RecName: Full=TFIIH basal transcription factor complex helicase XPD subunit; AltName: Full=Basic transcription factor 2 80 kDa subunit; Short=BTF2 p80; AltName: Full=CXPD; AltName: Full=DNA excision repair protein ERCC-2; AltName: Full=DNA repair protein complementing XP-D cells; AltName: Full=TFIIH basal transcription factor complex 80 kDa subunit; Short=TFIIH 80 kDa subunit; Short=TFIIH p80; AltName: Full=Xeroderma pigmentosum group D-complementing protein
Known Diseases associated with this Protein:
CEREBROOCULOFACIOSKELETAL SYNDROME
CEREBROOCULOFACIOSKELETAL SYNDROME 2
TRICHOTHIODYSTROPHY
TRICHOTHIODYSTROPHY PHOTOSENSITIVE (TTDP)
TRICHOTHIODYSTROPHY, INCLUDED
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D (XP-D)
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D, INCLUDED
42
6
12
2
34
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119540
ERCC2_HUMAN RecName: Full=TFIIH basal transcription factor complex helicase XPD subunit; AltName: Full=Basic transcription factor 2 80 kDa subunit; Short=BTF2 p80; AltName: Full=CXPD; AltName: Full=DNA excision repair protein ERCC-2; AltName: Full=DNA repair protein complementing XP-D cells; AltName: Full=TFIIH basal transcription factor complex 80 kDa subunit; Short=TFIIH 80 kDa subunit; Short=TFIIH p80; AltName: Full=Xeroderma pigmentosum group D-complementing protein
42
6
12
2
34
