| Symbol: Name: ID: |
TMLHE trimethyllysine hydroxylase, epsilon GFS:7180 |
| Gene name: | TMLHE |
| Chromosome: | Xq28 |
| Previous Symbols: | |
| Previous Names: | |
| Aliases: | TMLH, FLJ10727, BBOX2, XAP130 |
| Name Aliases: | butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2 |
| Locus Type: | gene with protein product |
| Mouse Genome Database ID: | MGI:2180203 | Rat Genome Database ID: | RGD:620629 |
| HGNC ID: | HGNC:18308 | RefSeq IDs: | NM_001184797 |
| Entrez Gene ID: | 55217 | Ensembl Gene ID: | ENSG00000185973 |
| VEGA IDs: | OTTHUMG00000022674 | UniProt ID: | Q9NVH6 |
| UCSC ID: | uc004fnn.2 | OMIM ID: | 300777 |
| Pubmed: | PMID8908511 PMID 11431483 | ||
| CCDS IDs: | CCDSCCDS14768.1 | ||
Trimethyllysine dioxygenase, mitochondrial is an enzyme that in humans is encoded by the 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].
Function: Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML).
Products for TMLHE gene
| Catalog | Product Name | Application | Company |
| GFS:E07180 | trimethyllysine hydroxylase, epsilon; ELISA kit | ELISA | n/a |
| GFS:A07180 | trimethyllysine hydroxylase, epsilon; Anti | ANTIBODIES | n/a |
| GFS:P07180 | trimethyllysine hydroxylase, epsilon; Protien | Protien | n/a |
