Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:32554502). This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.
Dyskeratosis congenita, autosomal recessive, 1
DKCB1
A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2
CHINE2
An autosomal recessive disorder characterized by infantile onset of steroid-resistant nephrotic syndrome, cataracts, sensorineural deafness, and enterocolitis. It results in death in early childhood.
None
The disease may be caused by variants affecting the gene represented in this entry.
Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 9
PFBMFT9
An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other features include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT9 is characterized by the development of pulmonary fibrosis or hematologic abnormalities in adulthood. Liver disease may also be present. There is incomplete penetrance and evidence of genetic anticipation.
None
The disease may be caused by variants affecting the gene represented in this entry.
Belongs to the NOP10 family.
NOLA3, NOP10, H/ACA ribonucleoprotein complex subunit 3, Nucleolar protein 10, Nucleolar protein family A member 3, snoRNP protein NOP10
Proteins
Epigenetics
7706Da
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