RecName: Full=Trimethyllysine dioxygenase, mitochondrial; AltName: Ful - Protein

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Investigating the active site of human trimethyllysine hydroxylase. [Biochem J. 2019]
Investigating the active site of human trimethyllysine hydroxylase.
Wang Y, Reddy YV, Al Temimi AHK, Venselaar H, Nelissen FHT, Lenstra DC, Mecinović J. Biochem J. 2019 Apr 10; 476(7):1109-1119. Epub 2019 Apr 10.
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. [Am J Med Genet A. 2015]
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.
Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Am J Med Genet A. 2015 Sep; 167A(9):2162-7. Epub 2015 May 5.
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. [Proc Natl Acad Sci U S A. 2012]
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, et al. Proc Natl Acad Sci U S A. 2012 May 22; 109(21):7974-81. Epub 2012 May 7.

RefSeq genomic sequence
See the genomic reference sequence for the TMLHE gene (NG_021318.1).
RefSeq protein isoforms
See 12 reference sequence protein isoforms for the TMLHE gene.

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Related structures

Q9NVH6 [Domain Mapping of Disease Mut...]
Q9NVH6
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Trimethyllysine dioxygenase, mitochondrial; AltName: Full=Epsilon-...
RecName: Full=Trimethyllysine dioxygenase, mitochondrial; AltName: Full=Epsilon-trimethyllysine 2-oxoglutarate dioxygenase; AltName: Full=Epsilon-trimethyllysine hydroxylase; AltName: Full=TML hydroxylase; AltName: Full=TML-alpha-ketoglutarate dioxygenase; Short=TML dioxygenase; Short=TMLD; Flags: Precursor
gi|21542295|sp|Q9NVH6.1|TMLH_HUMAN

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