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TMLHE - trimethyllysine hydroxylase, epsilon Gene

Also Known as TMLD; TMLH; BBOX2; AUTSX6; TMLHED; XAP130

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55217

About TMLHE

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:155,489,011-155,612,952 (from NCBI)

This gene has 6 transcripts (splice variants), 189 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in heart (RPKM 6.4), fat (RPKM 5.3) and 25 other tissues.

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]

TMLHE Products (2)

mRNA	Protein	Name
NM_001184797.2	NP_001171726.1	trimethyllysine dioxygenase, mitochondrial isoform 2 precursor
NM_018196.4	NP_060666.1	trimethyllysine dioxygenase, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables trimethyllysine dioxygenase activity	EXP EXP: Inferred from Experiment	11431483	GOA
NOT enables trimethyllysine dioxygenase activity	IDA IDA: Inferred from direct assay	15754339	GOA
enables trimethyllysine dioxygenase activity	IDA IDA: Inferred from direct assay	15754339	GOA
enables trimethyllysine dioxygenase activity	IMP IMP: Inferred from mutant phenotype	23092983	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in carnitine biosynthetic process	IDA IDA: Inferred from direct assay	15754339	GOA
involved in carnitine biosynthetic process	IMP IMP: Inferred from mutant phenotype	23092983	GOA
involved in negative regulation of oxidoreductase activity	IDA IDA: Inferred from direct assay	15754339	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	15754339	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMLHE Protein Structure

DUF971

TauD

0
100
200
300
400
421 a.a.

Protein Preferred Names	Protein Names
trimethyllysine dioxygenase, mitochondrial	TML hydroxylase

Related Diseases

Diseases	Alias
Autism X-Linked 6	Epsilon-Trimethyllysine Hydroxylase Deficiency AUTSX6 Autism, Susceptibility To, X-Linked 6 Tmlhed Autism, X-Linked 6
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency	BCKDKD Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency Bckdk Deficiency Autism-Epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Sarcosinemia	Sarcosine Dehydrogenase Complex Deficiency Sard Deficiency Sardh Deficiency SARCOS Hypersarcosinemia Sardhd Demethylation Defect Of N-Methylglycine
Waisman Syndrome	Early-Onset Parkinsonism-Intellectual Disability Syndrome Bgmr Wsn Laxova-Opitz Syndrome WSMN Parkinsonism, Early-Onset, With Mental Retardation Basal Ganglion Disorder With Mental Retardation Basal Ganglia Disorder With Intellectual Disability Laxova Brown Hogan Syndrome X-Linked Recessive Basal Ganglia Disorder With Intellectual Disability
Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency	Favism Favism, Susceptibility To Hemolytic Anemia, G6pd Deficient Class I Glucose-6-Phosphate Dehydrogenase Deficiency Class I G6pd Deficiency Severe Hemolytic Anemia Due To G6pd Deficiency Anemia, Non-Spherocytic Hemolytic, Due To G6pd Deficiency NSHA G6pd Deficient Hemolytic Anemia
Carnitine Deficiency, Systemic Primary	Carnitine Uptake Defect Renal Carnitine Transport Defect Systemic Primary Carnitine Deficiency CDSP Systemic Carnitine Deficiency Carnitine Transporter Deficiency Cud Primary Carnitine Deficiency Carnitine Uptake Deficiency Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine Carnitine Deficiency, Primary Systemic Primary Carnitine Deficiency Disease Deficiency Of Plasma-Membrane Carnitine Transporter Scd Carnitine Transporter, Plasma-Membrane, Deficiency Of Carnitine Transport Defect Carnitine Plasma-Membrane Transporter Deficiency Carnitine Transporter Defect Spcd
Citrullinemia, Classic	Citrullinemia Classic Citrullinemia Argininosuccinate Synthetase Deficiency Ass Deficiency Citrullinemia Type I CTLN1 Citrullinuria Citrullinemia, Type I Argininosuccinic Acid Synthetase Deficiency Ctnl1 Citrullinemia 1 Deficiency Of Citrulline-Aspartate Ligase Cit Argininosuccinate Synthase Deficiency Argininosuccinic Acid Synthase Deficiency Citrullinemia Type 1 Citrullinemia Classical
Atrial Septal Defect 2	ASD2 Atrial Heart Septal Defect 2 Atrial Septal Defect-2 Asd Ii Septal Defect, Atrial, Type 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14758	TMLHE Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TMLHE	RGD	RGD:620629
Felis catus	TMLHE	VGNC	VGNC:66377
Mus musculus	TMLHE	MGD	MGI:2180203
Bos taurus	TMLHE	VGNC	VGNC:36134
Canis familiaris	TMLHE	VGNC	VGNC:47622
Macaca mulatta	TMLHE	VGNC	VGNC:79123