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Gene: TMLHE (trimethyllysine hydroxylase, epsilon) Homo sapiens
Symbol: TMLHE
Name: trimethyllysine hydroxylase, epsilon
Description: This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Carnitine play an essential role in the transport of activated fatty acids across the inner mitochondrial membrane. The encoded protein converts trimethyllysine into hydroxytrimethyllysine. A pseudogene of this gene is found on chromosome X. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
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)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X155,489,011 - 155,612,961 (-)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
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


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

CRRD Object Information
CRRD ID: 736195
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE


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