Gene: TMLHE-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs147751295 in TMLHE-AS1;TMLHE gene and Venous Thromboembolism PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.