Basic Information

Symbol
TMLHE
RNA class
mRNA
Alias
Trimethyllysine Hydroxylase, Epsilon TMLH XAP130 BBOX2 Butyrobetaine (Gamma), 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine Hydroxylase) 2 Epsilon-Trimethyllysine 2-Oxoglutarate Dioxygenase Trimethyllysine Dioxygenase, Mitochondrial TML-Alpha-Ketoglutarate Dioxygenase Epsilon-Trimethyllysine Hydroxylase TML Hydroxylase EC 1.14.11.8 FLJ10727 TMLD TML Dioxygenase AUTSX6 TMLHED
Location (GRCh38)
X:155488606-155719107
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_018196.4
Sequence length
3952.0 nt
GC content
0.4205

Transcripts

ID Sequence Length GC content
NM_001184797.2 NCBI
AGGCUCUCCGCUGGGCCCGAGCGGGCUGGGGGAGGGGAGCGUGGGGCCG… 1323 nt 0.4626
NM_018196.4 NCBI
AGGCUCUCCGCUGGGCCCGAGCGGGCUGGGGGAGGGGAGCGUGGGGCCG… 3952 nt 0.4205
Summary

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]

Forensic Context

A study in human cardiac tissue from ischemic cardiomyopathy (ICM) patients demonstrated that the TMLHE gene, encoding the first enzyme in the carnitine/acylcarnitine biosynthesis pathway, is decreased in endothelial III cells in ICM compared to non-failing controls and dilated cardiomyopathy [Simonson et al. DOI:10.1016/j.celrep.2023.112086].