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Protein Coding Gene : Tmlhe trimethyllysine hydroxylase, epsilon

Primary Identifier  MGI:2180203 Organism  mouse, laboratory
Chromosome  X NCBI Gene Number  192289
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen and trimethyllysine dioxygenase activity. Acts upstream of or within carnitine biosynthetic process. Located in mitochondrion. Is expressed in several structures, including brain; liver; and lung. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human TMLHE (trimethyllysine hydroxylase, epsilon).
PHENOTYPE: Homozygous null males show decreased acylcarnitine concentrations in blood and cardiac tissues and decreased fatty acid oxidation. Ischemia-reperfusion-induced damage in cardiac mitochondria and infract size are reduced. [provided by MGI curators]
  • synonyms:
  • Tmlhe,
  • butyrobetaine (gamma), 2-oxoglutarate dioxygenase 2 (gamma-butyrobetaine hydroxylase),
  • MGI:1346032,
  • D430017M14Rik,
  • TMLH,
  • trimethyllysine hydroxylase, epsilon,
  • Bbox2,
  • MGI:2443676,
  • RIKEN cDNA D430017M14 gene

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Canonical gene --> Transcripts in specific strains.

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