TMLHE trimethyllysine hydroxylase, epsilon
Gene ID: 55217, updated on 17-Jun-2024Gene type: protein coding
Also known as: TMLD; TMLH; BBOX2; AUTSX6; TMLHED; XAP130
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- Go to complete Gene record for TMLHE
- Go to Variation Viewer for TMLHE variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Epsilon-trimethyllysine hydroxylase deficiency | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2013-08-01) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2013-08-01) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq28
- Sequence:
- Chromosome: X; NC_000023.11 (155489011..155612952, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TMLHE variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TMLHE @ LOVD
- Variation ViewerRelated Variants
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