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Gene: TMLHE (trimethyllysine hydroxylase, epsilon) Homo sapiens
Symbol: TMLHE
Name: trimethyllysine hydroxylase, epsilon
Description: Exhibits trimethyllysine dioxygenase activity. Involved in carnitine biosynthetic process and negative regulation of oxidoreductase activity. Localizes to the mitochondrion. Implicated in autistic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AUTSX6; BBOX2; butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2; epsilon-trimethyllysine 2-oxoglutarate dioxygenase; epsilon-trimethyllysine hydroxylase; FLJ10727; TML hydroxylase; TML-alpha-ketoglutarate dioxygenase; TMLD; TMLH; TMLHED; trimethyllysine dioxygenase, mitochondrial; XAP130
Mus musculus (house mouse) : Tmlhe (trimethyllysine hydroxylase, epsilon)  MGI  Alliance
Rattus norvegicus (Norway rat) : Tmlhe (trimethyllysine hydroxylase, epsilon)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Tmlhe (trimethyllysine hydroxylase, epsilon)
Pan paniscus (bonobo/pygmy chimpanzee) : TMLHE (trimethyllysine hydroxylase, epsilon)
Canis lupus familiaris (dog) : TMLHE (trimethyllysine hydroxylase, epsilon)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Tmlhe (trimethyllysine hydroxylase, epsilon)
Sus scrofa (pig) : TMLHE (trimethyllysine hydroxylase, epsilon)
Chlorocebus sabaeus (African green monkey) : TMLHE (trimethyllysine hydroxylase, epsilon)
Heterocephalus glaber (naked mole-rat) : Tmlhe (trimethyllysine hydroxylase, epsilon)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38 EnsemblX155,489,011 - 155,669,944 (-)Ensembl
GRCh38X155,489,011 - 155,612,952 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X154,718,672 - 154,842,622 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X154,372,967 - 154,495,791 (-)NCBINCBI36hg18NCBI36
Build 34X154,283,476 - 154,406,301NCBI
CeleraX154,736,459 - 154,739,995 (+)NCBI
CeleraX154,903,691 - 154,996,305 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX143,232,719 - 143,323,711 (-)NCBIHuRef
CHM1_1X154,630,300 - 154,754,464 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on TMLHE
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 736195
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-02-18
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.