NOP10 Chromosome 15
NOP10 ribonucleoprotein
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What This Gene Does
This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA2 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nop10p. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"H/ACA ribonucleoprotein complex|Telomerase holoenzyme subunits"
Locus Type
gene with protein product
Location
15q14
Ensembl
ENSG00000182117
Associated Conditions (10)
Dyskeratosis congenita
autosomal recessive 1
Pulmonary fibrosis and/or bone marrow failure syndrome
telomere-related
9
Hereditary cancer-predisposing syndrome
Cataracts
hearing impairment
nephrotic syndrome
and enterocolitis 2
Key Variants
RS146261631
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 1, Pulmonary fibrosis and/or bone marrow failure syndrome
Health Risk
RS72720799
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 1, Hereditary cancer-predisposing syndrome
Health Risk
RS761222362
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 1, Dyskeratosis congenita
Health Risk
RS1321378060
Pathogenic
Cataracts, hearing impairment, nephrotic syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146261631 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 1, Pulmonary fibrosis and/or bone marrow failure syndrome |
| RS72720799 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 1, Hereditary cancer-predisposing syndrome |
| RS761222362 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 1, Dyskeratosis congenita |
| RS1321378060 | Health Risk | Pathogenic | Cataracts, hearing impairment, nephrotic syndrome |