Aliases for TMLHE Gene
- Trimethyllysine Hydroxylase, Epsilon 2 3 5
- Butyrobetaine (Gamma), 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine Hydroxylase) 2 2 3
- Epsilon-Trimethyllysine 2-Oxoglutarate Dioxygenase 3 4
- Epsilon-Trimethyllysine Hydroxylase 3 4
- TML-Alpha-Ketoglutarate Dioxygenase 3 4
- TML Hydroxylase 3 4
- EC 22.214.171.124 4 61
- TMLD 3 4
External Ids for TMLHE Gene
Previous GeneCards Identifiers for TMLHE Gene
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]
GeneCards Summary for TMLHE Gene
TMLHE (Trimethyllysine Hydroxylase, Epsilon) is a Protein Coding gene. Diseases associated with TMLHE include Epsilon-Trimethyllysine Hydroxylase Deficiency and Opitz-Gbbb Syndrome. Among its related pathways are Lysine degradation and Valine, leucine and isoleucine degradation. GO annotations related to this gene include oxidoreductase activity and L-ascorbic acid binding. An important paralog of this gene is BBOX1.
UniProtKB/Swiss-Prot for TMLHE Gene
Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML) (PubMed:11431483, PubMed:23092983).