Epsilon-Trimethyllysine Hydroxylase

Alternative Names

  • TMLHE
  • TMLH
  • Butyrobetaine-Gamma,2-Oxoglutarate Dioxygenase 2
  • BBOX2
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OMIM Number

300777

NCBI Gene ID

55217

Uniprot ID

Q9NVH6

Length

123,942 bases

No. of Exons

13

No. of isoforms

8

Protein Name

Trimethyllysine dioxygenase, mitochondrial

Molecular Mass

49518 Da

Amino Acid Count

421

Genomic Location

chrX:155,489,011-155,612,952

Gene Map Locus
Xq28

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_018196.4:c.961_962delQatarNC_000023.11:g.155506933_155506934delPathogenicPathogenicNG_021318.1:g.111030_111031del; NM_018196.4:c.961_962del; NP_060666.1:p.Ile321LeufsTer5782624357225231
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