NOP10

A gene on chromosome 15q14-q15 that encodes a protein required for ribosome biogenesis and telomere maintenance, and possibly also for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.

References in periodicals archive ?

To date, nearly 14 genes have been identified with DKC of which mutation involving DKC1, TERT, TERC, and NOP10 genes account for nearly 65% of all cases.

Dyskeratosis congenita, bone marrow failure, and gastric adenocarcinoma: an insight into telomere biology

Many AA patients with short telomeres carry mutations in genes such as those encoding the telomerase components TERT or TERC, the genes NOP10 and NOLA1, and the genes of Shelterin components [7-9].

Expression of shelterin component POT1 is associated with decreased telomere length and immunity condition in humans with severe aplastic anemia

Mutations in one of 8 genes involved in telomere biology--DKC1, TINF2, TERC, TERT (telomerase reverse transcriptase), NHP2 [NHP2 ribonucleoprotein homolog (yeast)], NOP10 [NOP10 ribonucleoprotein homolog (yeast)], WRAP53 (WD repeat containing, antisense to TP53; formerly TCAB1), and CTC1 (CTS telomere maintenance complex component 1)--can be identified in approximately 50% of patients with clinical features of classic DC, the remainder being as yet uncharacterized (3, 4).

These mutations all participate in telomere maintenance but fall into 3 distinct telomere-maintenance pathways: the telomerase complex, which elongates telomeres in stem cells [disease genes TERC, TERT, DKC1, NOP10, NHP2, and WRAP53 (formerly TCAB1)]; the shelterin complex, which protects telomere ends and regulates telomerase recruitment (disease gene TINF2); and the CTS complex, which participates in telomere replication and regulates telomerase activity at the telomere end (disease gene CTC1) (1).

A young adult with aplastic anemia and gray hair

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