DKC1_HUMAN RecName: Full=H/ACA ribonucleoprotein complex subunit 4; AltName: Full=CBF5 homolog; AltName: Full=Dyskerin; AltName: Full=Nopp140-associated protein of 57 kDa; AltName: Full=Nucleolar protein NAP57; AltName: Full=Nucleolar protein family A member 4; AltName: Full=snoRNP protein DKC1
Known Diseases associated with this Protein:
DYSKERATOSIS CONGENITA, X-LINKED
DYSKERATOSIS CONGENITA, X-LINKED (DKCX)
HOYERAAL-HREIDARSSON SYNDROME (HHS)
32
1
10
0
23
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3913488
DKC1_HUMAN RecName: Full=H/ACA ribonucleoprotein complex subunit 4; AltName: Full=CBF5 homolog; AltName: Full=Dyskerin; AltName: Full=Nopp140-associated protein of 57 kDa; AltName: Full=Nucleolar protein NAP57; AltName: Full=Nucleolar protein family A member 4; AltName: Full=snoRNP protein DKC1
DYSKERATOSIS CONGENITA, X-LINKED
32
1
10
0
23
