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Literature summary for 3.1.13.4 extracted from

  • Dhanraj, S.; Gunja, S.M.; Deveau, A.P.; Nissbeck, M.; Boonyawat, B.; Coombs, A.J.; Renieri, A.; Mucciolo, M.; Marozza, A.; Buoni, S.; Turner, L.; Li, H.; Jarrar, A.; Sabanayagam, M.; Kirby, M.; Shago, M.; Pinto, D.; Berman, J.N.; Scherer, S.W.; Virtanen, A.; Dror, Y.
    Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN) (2015), J. Med. Genet., 52, 738-748 .
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene PARN, DNA and amino acid sequence determination and analysis, genotyping, quantitative real-time PCR enzyme expression analysis Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens Poly(A)-specific ribonuclease (PARN) is a deadenylase that processes mRNAs and non-coding RNA ?
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?

Organism

Organism UniProt Comment Textmining
Homo sapiens O95453
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Source Tissue

Source Tissue Comment Organism Textmining
bone marrow cell
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Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information Poly(A)-specific ribonuclease (PARN) is a deadenylase that processes mRNAs and non-coding RNA Homo sapiens ?
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?

Synonyms

Synonyms Comment Organism
PARN
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Homo sapiens

General Information

General Information Comment Organism
malfunction mutations in PARN in patients with haematological and neurological manifestations. Large monoallelic deletions in PARN in four patients with developmental delay or mental illness. One patient in particular has a severe neurological phenotype, central hypomyelination and bone marrow failure. This patient has an additional missense mutation on the non-deleted allele and severely reduced PARN protein and deadenylation activity. Cells from this patient have impaired oligoadenylation of specific H/ACA box small nucleolar RNAs. Importantly, PARN-deficient patient cells manifest short telomeres and an aberrant ribosome profile similar to those described in some variants of dyskeratosis congenita. Knocking down PARN in human marrow cells impaires haematopoiesis. Biallelic mutations in PARN results in severely reduced protein level. PARN-deficient patient cells manifest PARN-associated defects in snoRNA and scaRNA trimming and aberrant ribosome profile. Phenotypes, detailed overview Homo sapiens
physiological function deadenylation regulates RNA function and fate. Poly(A)-specific ribonuclease (PARN) is a deadenylase that processes mRNAs and non-coding RNA Homo sapiens