TMLHE

GENE INFORMATION

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Gene name

TMLHE (HGNC Symbol)

Synonyms

BBOX2, FLJ10727, TMLH, XAP130

Description

Trimethyllysine hydroxylase, epsilon (HGNC Symbol)

Entrez 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]

Chromosome

X

Cytoband

q28

Chromosome location (bp)

154719776 - 154899605

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000185973 (version 75.37)

Entrez gene

55217

UniProt

Q9NVH6 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NVH6

Antibodypedia

TMLHE antibodies
 

PROTEIN VIEW

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TMLHE-001
 
TMLHE-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TMLHE-001 ENSP00000335261
ENST00000334398
Q9NVH6
Show all »
Show » Show » 421 49.5 No 0
TMLHE-002 ENSP00000358447
ENST00000369439
Q9NVH6
Show all »
Show » Show » 376 44 No 0