TMLHE (trimethyllysine hydroxylase, epsilon)

2014-08-01  

Identity

HGNC
LOCATION
Xq28
LOCUSID
ALIAS
AUTSX6,BBOX2,TMLD,TMLH,TMLHED,XAP130
FUSION GENES

Other Information

Locus ID:

NCBI: 55217
MIM: 300777
HGNC: 18308
Ensembl: ENSG00000185973

Variants:

dbSNP: 55217
ClinVar: 55217
TCGA: ENSG00000185973
COSMIC: TMLHE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185973ENST00000334398Q9NVH6
ENSG00000185973ENST00000369439Q9NVH6

Expression (GTEx)

0
1
2
3
4
5
6
7
8

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895
Carnitine synthesisREACTOMER-HSA-71262

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
225666352012A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.49
218652982011Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.41
230929832012Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.39
157543392005Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting.5
174088832007Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants.3
284926962017Complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis.1
308988472019Investigating the active site of human trimethyllysine hydroxylase.0

Citation

Dessen P

TMLHE (trimethyllysine hydroxylase, epsilon)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54716/tmlhe