MRPL40

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External IDsGeneCards: [1]
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39S ribosomal protein L40, mitochondrial is a protein that in humans is encoded by the MRPL40 gene.[1][2][3]

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 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. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome.[3]

References

  1. Funke B, Puech A, Saint-Jore B, Pandita R, Skoultchi A, Morrow B (Dec 1998). "Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11". Genomics. 53 (2): 146–54. doi:10.1006/geno.1998.5488. PMID 9790763.
  2. Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S, Watanabe K, Tanaka T (Sep 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. doi:10.1006/geno.2001.6622. PMID 11543634.
  3. 3.0 3.1 "Entrez Gene: MRPL40 mitochondrial ribosomal protein L40".

Further reading



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