1. Gene
  2. TMLHE - trimethyllysine hydroxylase, epsilon Gene

TMLHE - trimethyllysine hydroxylase, epsilon Gene

Homo sapiens

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

Gene ID: 55217 | Gene type: protein coding

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

TMLHE Protein Structure

DUF971

DUF971: Protein of unknown function (DUF971) (47 - 125)

TauD

TauD: Taurine catabolism dioxygenase TauD, TfdA family (173 - 404)

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  • 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

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