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    MT-TP mitochondrially encoded tRNA proline [ Homo sapiens (human) ]

    Gene ID: 4571, updated on 12-Sep-2024

    Summary

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    Official Symbol
    MT-TPprovided by HGNC
    Official Full Name
    mitochondrially encoded tRNA prolineprovided by HGNC
    Primary source
    HGNC:HGNC:7494
    See related
    MIM:590075; AllianceGenome:HGNC:7494
    Gene type
    tRNA
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MTTP; TRNP
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    Genomic context

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    See MT-TP in Genome Data Viewer
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (15956..16023, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (15956..16023, complement)

    Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene cytochrome b Neighboring gene tRNA-Thr

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Mitochondrial polymorphisms are associated both with increased and decreased longevity. Castri L, et al. Hum Hered, 2009. PMID 19077432, Free PMC Article
    2. MERRF. Adam MP, et al. , 1993. PMID 20301693
    3. Primary Mitochondrial Disorders Overview. Adam MP, et al. , 1993. PMID 20301403
    4. MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease. Bhardwaj A, et al. BMC Bioinformatics, 2009 Aug 27. PMID 19758471, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    MERRF syndrome
    MedGen: C0162672 OMIM: 545000 GeneReviews: Primary Mitochondrial Disorders Overview, MERRF
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    • NAR: 1597

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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