Gene: TMLHE

Alternate names for this Gene: AUTSX6|BBOX2|TMLD|TMLH|TMLHED|XAP130

Gene 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.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: trimethyllysine hydroxylase, epsilon

Type of Gene: protein-coding

Gene: TMLHE-AS1

Alternate names for this Gene:

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rs782001959 in TMLHE;TMLHE-AS1 gene and AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 PMID 23092983 2012 Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.

PMID 21865298 2011 Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.

PMID 25943046 2015 Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.

rs150926226 in TMLHE;TMLHE-AS1 gene and Factor VIII measurement PMID 30586737 2019 Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.