Trimethyllysine Dioxygenase (TMLH) Antibody – Rabbit Polyclonal

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]

TMLHE: Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML). Defects in TMLHE are the cause of epsilon-trimethyllysine hydroxylase deficiency (TMLHED). An inborn error of carnitine biosynthesis associated with an increased risk for developing autistic behavior. Autism is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. Belongs to the gamma-BBH/TMLD family. 8 isoforms of the human protein are produced by alternative promoter.

Protein type: Amino Acid Metabolism - lysine degradation; Mitochondrial; Oxidoreductase; EC 1.14.11.8

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: mitochondrial matrix; mitochondrion

Molecular Function: iron ion binding; L-ascorbic acid binding; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen; trimethyllysine dioxygenase activity

Biological Process: branched chain family amino acid catabolic process; carnitine biosynthetic process; negative regulation of oxidoreductase activity

Disease: Epsilon-trimethyllysine Hydroxylase Deficiency