Identity
HGNC
LOCATION
Xq28
LOCUSID
ALIAS
AUTSX6,BBOX2,TMLD,TMLH,TMLHED,XAP130
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55217
MIM: 300777
HGNC: 18308
Ensembl: ENSG00000185973
Variants:
dbSNP: 55217
ClinVar: 55217
TCGA: ENSG00000185973
COSMIC: TMLHE
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000185973 | ENST00000334398 | Q9NVH6 |
| ENSG00000185973 | ENST00000369439 | Q9NVH6 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30898847 | 2019 | Investigating the active site of human trimethyllysine hydroxylase. | 3 |
| 30898847 | 2019 | Investigating the active site of human trimethyllysine hydroxylase. | 3 |
| 28492696 | 2017 | Complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis. | 3 |
| 28492696 | 2017 | Complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis. | 3 |
| 22566635 | 2012 | A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. | 65 |
| 23092983 | 2012 | Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. | 46 |
| 22566635 | 2012 | A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. | 65 |
| 23092983 | 2012 | Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. | 46 |
| 21865298 | 2011 | Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. | 58 |
| 21865298 | 2011 | Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. | 58 |
| 17408883 | 2007 | Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants. | 3 |
| 17408883 | 2007 | Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants. | 3 |
| 15754339 | 2005 | Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting. | 5 |
| 15754339 | 2005 | Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting. | 5 |
Citation
Dessen P
TMLHE (trimethyllysine hydroxylase, epsilon)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54716/tmlhe-(trimethyllysine-hydroxylase-epsilon)
