Gene

TAT

Species
Homo sapiens
Symbol
TAT
Name
tyrosine aminotransferase
Synonyms
  • L-tyrosine:2-oxoglutarate aminotransferase
  • testis tissue sperm-binding protein Li 34a
Biotype
protein coding gene
Automated Description
Enables L-tyrosine-2-oxoglutarate transaminase activity and identical protein binding activity. Involved in 2-oxoglutarate metabolic process; glutamate metabolic process; and tyrosine catabolic process. Predicted to be located in cytosol. Implicated in tyrosinemia and tyrosinemia type II.
RGD Description
This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible cognitive disability. A regulator gene for tyrosine aminotransferase is X-linked. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45744
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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      Transgenic construct
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          TAT molecule type
          Interactor gene
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            Genetic Interactions

            TAT role
            TAT genetic perturbation
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