MyBioSource.com's Anti-TMLHE Antibody, Rabbit Polyclonal is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Immunohistochemistry, and Immunohistochemistry - fixed.
Description
TMLHE (Trimethyllysine Hydroxylase, Epsilon) is a Protein Coding gene. The TMLHE gene, located on Xq28, is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat, etc. This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. The encoded protein converts trimethyllysine into hydroxytrimethyllysine. The TMLHE is widely expressed in the heart, fat, and other tissues. Deletion of exon 2 of TMLHE causes enzyme deficiency, resulting in increased substrate concentration (6-N-trimethyllysine) and decreased product levels (3-hydroxy-6-N-trimethyllysine and gamma-butyrobetaine) in plasma and urine. Diseases associated with TMLHE include Autism X-Linked 6 and Autism. Among its related pathways are Valine, leucine, and isoleucine degradation, and Lysine degradation