Abcam, ab220232, Anti-TMLHE antibody

Size: 100µL
Rabbit Polyclonal TMLHE antibody. Suitable for ICC/IF and reacts with Human samples. Cited in 1 publication. Immunogen corresponding to Recombinant Fragment Protein within Human TMLHE aa 300 to C-terminus.
Key facts
Host species:Rabbit,
Clonality:Polyclonal,
Isotype:IgG,
Carrier free:No,
Reacts with:Human,
Applications:ICC/IFSee reactivity dataSee the reactivity data table below for information on validated species and application combinations.,
Immunogen:Recombinant Fragment Protein within Human TMLHE aa 300 to C-terminus. The exact immunogen used to generate this antibody is proprietary information.Q9NVH6

Properties and Storage Information:
Form-Liquid, Purification technique-Affinity purification Immunogen, Storage buffer-pH: 7.2Preservative: 0.02% Sodium azideConstituents: PBS, 40% Glycerol (glycerin, glycerine), Shipped at conditions-Blue Ice, Appropriate short-term storage duration-1-2 weeks, Appropriate short-term storage conditions-+4°C, Appropriate long-term storage conditions--20°C, Aliquoting information-Upon delivery aliquot, Storage information-Avoid freeze / thaw cycle

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
TMLHE also known as trimethyllysine hydroxylase epsilon is an enzyme with a mass of approximately 43 kDa. It is expressed mainly in the kidneys liver and heart. This enzyme catalyzes the hydroxylation of trimethyllysine to hydroxytrimethyllysine a critical step in the carnitine biosynthesis pathway. TMLHE performs its function as a dioxygenase using Fe(II) and 2-oxoglutarate as cofactors. It plays a significant role in the metabolism of fatty acids.
Biological function summary
The enzyme operates within the context of carnitine production which is necessary for the transport of long-chain fatty acids into mitochondria for beta-oxidation. TMLHE does not form part of a larger enzyme complex but functions independently. This biological role underpins energy production through fatty acids highlighting its importance in cellular metabolism. Its activity directly impacts carnitine availability and subsequently energy yield from lipid sources.
Pathways
TMLHE operates within the carnitine biosynthesis pathway significant for lipid metabolism. The enzyme shares functional connections with other enzymes in this pathway such as BBOX1 (gamma-butyrobetaine hydroxylase) which further catalyzes carnitine synthesis. The carnitine transport pathway closely linked to energy production relies on these enzymes. TMLHE's role maintains flux through this pathway ensuring efficient fatty acid metabolism and energy extraction.
Mutations or malfunctions in TMLHE correlate with disorders like epilepsy and autism spectrum disorders. Disturbances in TMLHE function can lead to altered carnitine levels resulting in impaired brain metabolism. This impairment sometimes overlaps with deficiencies in related enzymes such as CPT1A (carnitine palmitoyltransferase I) which also impact fatty acid transportation. Understanding TMLHE's role aids in uncovering the metabolic contributions to these neurological conditions.