TMLHE Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TMLHE |
| Official Name | trimethyllysine hydroxylase, epsilon [Source:HGNC Symbol;Acc:HGNC:18308] |
| Ensembl ID | ENSG00000185973 |
| Bio databases IDs | |
| Aliases | trimethyllysine hydroxylase, epsilon, butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2 |
| Synonyms | AUTSX6, BBOX2, D430017M14Rik, TMLD, TMLH, TMLHE1, TMLHED, trimethyllysine hydroxylase, epsilon, trimethyllysine hydroxylase, ε, XAP130 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TMLHE often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- trimethyllysine dioxygenase
- enzyme
- single donor 2 atom incorporation:oxygen oxidoreductase
- gamma-butyrobetaine hydroxylase
- Gamma-butyrobetaine hydroxylase-like, N-terminal
- CAS_like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- epsilon-trimethyllysine hydroxylase deficiency
- pervasive developmental disorder
- rotator cuff injury
- venous thromboembolism
- early onset hypertension
- cerebellar hypoplasia or atrophy, epilepsy, and global developmental delay
regulated by
- agmatine
- RHO
- metribolone
regulates
- carnitine
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMLHE gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carnitine biosynthetic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- trimethyllysine dioxygenase activity
- iron ion binding