Anti-TMLHE Rabbit Polyclonal Antibody for IF/ICC and ELISA - Q9NVH6

Core Product Specifications and Parameters

Biological Background: TMLHE Function and Localization

• TMLHE (trimethyllysine hydroxylase, also known as TMLD, BBOX2) is a mitochondrial enzyme that catalyzes the conversion of trimethyllysine (TML) into hydroxytrimethyllysine (HTML) in the carnitine biosynthesis pathway.
• The gene undergoes alternative splicing, generating multiple isoforms with distinct tissue expression; most isoforms are widely expressed in adult and fetal tissues, while isoform 8 is restricted to heart and skeletal muscle.
• TMLHE belongs to the gamma-butyrobetaine hydroxylase subfamily of iron(II)/2-oxoglutarate-dependent dioxygenases, featuring a conserved metal-binding site for iron.
• The protein localizes to the mitochondrial matrix, directed by an N-terminal transit peptide, where it participates in mitochondrial carnitine metabolism.
• Post-translational modifications include acetylation; the enzyme is subject to alternative promoter usage, contributing to isoform diversity.
• Mutations in TMLHE are associated with autism spectrum disorder (AUTSX6), underscoring its role in neurological development and disease.

Experimental Guidance and Technical Tips

• The immunogen covers amino acids 167–376 of human TMLHE (isoform 1), targeting a region that may be conserved across splice variants; validate specificity for your isoform of interest.
• For IF/ICC applications, expect a mitochondrial staining pattern; include appropriate organelle markers and knockout/knockdown controls to confirm localization.
• In ELISA, consider optimizing coating antigen concentration and antibody dilution; cross-reactivity with other species is not reported, so the antibody is best suited for human samples.
• Since TMLHE is a mitochondrial enzyme, gentle lysis conditions preserving organelle integrity may enhance detection; reduce harsh detergents if signal is weak.

CamelBio: Your One-Stop Sourcing Bridge

CamelBio serves as a comprehensive sourcing partner for IVD raw materials, supporting diagnostic manufacturers and researchers from concept to clinic. This anti-TMLHE antibody fits into metabolic and neurological research workflows, including carnitine biosynthesis and autism studies. Beyond this polyclonal antibody, CamelBio offers validated antibody pairs, optimized monoclonal/polyclonal reagents, bulk ancillary materials, and rare-target sourcing—helping you streamline procurement and accelerate assay development.