Sequence of TMLH_HUMAN

trimethyllysine dioxygenase

Q9NVH6

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Complete sequencing and characterization of 21,243 full-length human cDNAs.

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The DNA sequence of the human X chromosome.

Nature

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The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

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2004

1265188

Monfregola J.,Cevenini A.,Terracciano A.,van Vlies N.,Arbucci S.,Wanders R.J.,D'Urso M.,Vaz F.M.,Ursini M.V.

Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting.

J. Cell. Physiol.

204

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2005

1265189

Monfregola J.,Napolitano G.,Conte I.,Cevenini A.,Migliaccio C.,D'Urso M.,Ursini M.V.

Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants.

Gene

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2007

1265190

Choudhary C.,Kumar C.,Gnad F.,Nielsen M.L.,Rehman M.,Walther T.C.,Olsen J.V.,Mann M.

Lysine acetylation targets protein complexes and co-regulates major cellular functions.

Science

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Celestino-Soper P.B.,Shaw C.A.,Sanders S.J.,Li J.,Murtha M.T.,Ercan-Sencicek A.G.,Davis L.,Thomson S.,Gambin T.,Chinault A.C.,Ou Z.,German J.R.,Milosavljevic A.,Sutcliffe J.S.,Cook E.H. Jr.,Stankiewicz P.,State M.W.,Beaudet A.L.

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.

Hum. Mol. Genet.

20

4360-4370

2011

1265192

Lesniak R.K.,Markolovic S.,Tars K.,Schofield C.J.

Human carnitine biosynthesis proceeds via (2S,3S)-3-hydroxy-Nepsilon-trimethyllysine.

Chem. Commun. (Camb.)

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2016

1265193

Reddy Y.V.,Al Temimi A.H.,White P.B.,Mecinovic J.

Evidence that trimethyllysine hydroxylase catalyzes the formation of (2S,3S)-3-hydroxy-Nepsilon-trimethyllysine.

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Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.

Transl. Psychiatry

2

0-0

2012