Gene Symbol | TMLHE |
Entrez Gene ID | 55217 |
Full Name | trimethyllysine hydroxylase, epsilon |
Synonyms | AUTSX6,BBOX2,TMLD,TMLH,TMLHED,XAP130 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | {Autism, susceptibility to, X-linked 6}, 300872 (3) |