Property Summary

NCBI Gene PubMed Count 16
PubMed Score 28.99
PubTator Score 14.63

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Expression

Synonym

Accession Q9NVH6 A8K6M9 B4E3R3 Q5TZB5 Q6IA90 Q8TBT0
Symbols TMLD
TMLH
BBOX2
AUTSX6
TMLHED
XAP130

Gene

  Ortholog (15)

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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