Mitochondrial ribosomal protein L3
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Mitochondrial ribosomal protein L3 is a protein that in humans is encoded by the MRPL3 gene.[5]
Mammalian
5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008].[5]
Clinical relevance
Mutations in this gene have been shown to cause mitochondrial cardiomyopathy.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000114686 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032563 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: Mitochondrial ribosomal protein L3". Retrieved 2011-12-30.
- S2CID 46713472.
Further reading
- Kenmochi, N.; Suzuki, T.; Uechi, T.; Magoori, M.; Kuniba, M.; Higa, S.; Watanabe, K.; Tanaka, T. (2001). "The Human Mitochondrial Ribosomal Protein Genes: Mapping of 54 Genes to the Chromosomes and Implications for Human Disorders". Genomics. 77 (1–2): 65–70. PMID 11543634.
- Ou, J. H.; Yen, T. S.; Wang, Y. F.; Kam, W. K.; Rutter, W. J. (1987). "Cloning and characterization of a human ribosomal protein gene with enhanced expression in fetal and neoplastic cells". Nucleic Acids Research. 15 (21): 8919–8934. PMID 2891103.
External links
- Overview of all the structural information available in the PDB for UniProt: P09001 (39S ribosomal protein L3, mitochondrial) at the PDBe-KB.
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