Protein Name trimethyllysine hydroxylase, epsilon
Organism Homo sapiens
Gene ID 55217
Gene Symbol

TMLHE

UniProt Q9NVH6 (TMLH_HUMAN)
Relationships Total Number of functionally related compound(s) : 25
Total Number of Articles : 15
Description

trimethyllysine hydroxylase, epsilon

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.[provided by RefSeq, May 2010]

synonyms
  • trimethyllysine dioxygenase, mitochondrial
  • TML hydroxylase
  • TML-alpha-ketoglutarate dioxygenase
Click to show/hide the synonyms
Properties