TMLHE trimethyllysine hydroxylase, epsilon [ Homo sapiens (human) ] - Gene - Data resources

55217

TMLHE trimethyllysine hydroxylase, epsilon [ Homo sapiens (human) ]
Source: NCBI Gene (ID 55217)

Symbol: TMLHE

Full name: trimethyllysine hydroxylase, epsilon

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: AUTSX6; BBOX2; TMLD; TMLH; TMLHED; XAP130

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]

Expression: Ubiquitous expression in heart (RPKM 6.4), fat (RPKM 5.3) and 25 other tissues

Orthologs: mouse

Gene size: 123942bp

Exon count: 13