Property Summary

NCBI Gene PubMed Count 16
Grant Count 12
R01 Count 5
Funding $847,871.8
PubMed Score 28.99
PubTator Score 14.63

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (2)

Expression

Gene RIF (5)

PMID Text
23092983 Study found 3 mutations in TMLHE to be associated with autism spectrum disorder, c.229C>T/p.Arg77X, c.730G>C/p.Asp244His, and c.1107G>T/p.Glu369Asp.
22566635 TMLHE deficiency is common in control males and was not significantly increased in frequency in probands from simplex autism families, however, it was 2.82-fold more frequent in probands from male-male multiplex autism families.
21865298 Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
17408883 By 5' and 3' RACE, we identified and mapped two alternative 5' TMLH first exons and seven alternative 3'-splice variants.
15754339 C-terminal region of trimethyllysine hydroxylase, epsilon contains the main determinants for its enzymatic activity including a key H389 residue

AA Sequence

MWYHRLSHLHSRLQDLLKGGVIYPALPQPNFKSLLPLAVHWHHTASKSLTCAWQQHEDHFELKYANTVMR      1 - 70
FDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETTLFFTWPDGHVTKYDLNWLVKNSYEG     71 - 140
QKQKVIQPRILWNAEIYQQAQVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQEHTEKLAERIS    141 - 210
LIRETIYGRMWYFTSDFSRGDTAYTKLALDRHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQ    211 - 280
VLQKAPEEFELLSKVPLKHEYIEDVGECHNHMIGIGPVLNIYPWNKELYLIRYNNYDRAVINTVPYDVVH    281 - 350
RWYTAHRTLTIELRRPENEFWVKLKPGRVLFIDNWRVLHGRECFTGYRQLCGCYLTRDDVLNTARLLGLQ    351 - 420
A//

Text Mined References (17)

PMID Year Title
23092983 2012 Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
22566635 2012 A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
21865298 2011 Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
17408883 2007 Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15772651 2005 The DNA sequence of the human X chromosome.
15754339 2005 Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
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