1. Gene
  2. PTS - 6-pyruvoyltetrahydropterin synthase Gene

PTS - 6-pyruvoyltetrahydropterin synthase Gene

Homo sapiens

Also known as PTPS

Gene ID: 5805 | Gene type: protein coding

About PTS

Cytogenetic location: 11q23.1 Genomic coordinates (GRCh38): 11:112,226,428-112,233,973 (from NCBI)

This gene has 9 transcripts (splice variants), 252 orthologues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 23.3), kidney (RPKM 11.8) and 25 other tissues.

Summary

The Enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various Enzyme activities, including Enzymes involved in serotonin biosynthesis and NO Synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]

PTS Products(1)

mRNA Protein Name
NM_000317.3 NP_000308.1 6-pyruvoyl tetrahydrobiopterin synthase

PTS Protein Structure

PTPS

PTPS: 6-pyruvoyl tetrahydropterin synthase (14 - 145)

  • 0
  • 100
  • 145 a.a.
Protein Preferred Names Protein Names

6-pyruvoyl tetrahydrobiopterin synthase

PTP synthase

Recombinant PTS Proteins

Cat. No. Product Name Accession Purity
HY-P73684 PTS Protein, Human (His) Q03393 (M1-E145) ≥95%

Related Diseases

Diseases Alias
Hyperphenylalaninemia, Bh4-Deficient, A

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Pts Deficiency

HPABH4A

Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency

Ptsd

Bh4-Deficient Hyperphenylalaninemia A

Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency

Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency

Hyperphenylalanemia, Bh4-Deficient, A

Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

6-Pyruvoyltetrahydropterin Synthase Deficiency

Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency

Ptpsd

Hyperphenylalaninemia, Bh4-Deficient, Type A

Hyperphenylalaninemia

Hyperphenylalaninaemia

Phenylketonuria

Phenylalanine Hydroxylase Deficiency

PKU

Pah Deficiency

Folling Disease

Maternal Phenylketonuria

Phenylketonurias

Oligophrenia Phenylpyruvica

Hyperphenylalaninemia, Non-Pku Mild

Folling'S Disease

Phenylalaninemia

Mild Phenylketonuria

Mild Pku

Variant Pku

Variant Phenylketonuria

Mpku

Deficiency Disease, Phenylalanine Hydroxylase

Phenylketonuria, Maternal

Phenylalanine Hydroxylase Deficiency Disease

Hyperphenylalaninemic Embryopathy

Maternal Pku

Maternal Hyperphenylalaninemia

Phenylketonuric Embryopathy

Hyperphenylalaninemia

HPA

Non-Phenylketonuria Hyperphenylalaninemia

NON-PKU HPA

Phenylketonuria Maternal

Classical Phenylketonuria

Hyperphenylalaninaemia

Pku - [Phenylketonuria]

Hyperphenylalaninemia, Bh4-Deficient, B

Gtp Cyclohydrolase I Deficiency

HPABH4B

Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase I Deficiency

Bh4-Deficient Hyperphenylalaninemia B

Gtp Cyclohydrolase 1 Deficiency

Tetrahydrobiopterin-Deficient Hyperphenylalaninemia B

Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase 1 Deficiency

Gtpch Deficiency

Hyperphenylalaninemia Due To Gtp Cyclohydrolase Deficiency

Atypical Severe Phenylketonuria Due To Gtp Cyclohydrolase I Deficiency

Gch1 Deficiency

Guanosine Triphosphate Cyclohydrolase I Deficiency

Hyperphenylalaninemia With Neopterin Deficiency

Classic Phenylketonuria

Classical Phenylketonuria

Classic Pku

Phenylketonuria Classical

Phenylpyruvic Oligophrenia

Oligophrenia Phenylpyruvica

Imbecilitus Phenylpyruvica

Typical Phenylketonuria

Phenylpyruvic Aciduria

Pah - [Phenylalanine Hydroxylase] Deficiency

Hyperphenylalaninaemia Type I

Typical Pku - [Phenylketonuria]

Folling Disease

Tyrosinemia

Hypertyrosinemia

Tyrosinemias

Hereditary Tyrosinemia

Hypertyrosinaemia

Tyrosinaemia

Hereditary Hypertyrosinemia

Plague

Yersiniosis

Yersinia Infections

Infection By Yersinia Pestis

Pasteurella Pestis Infection

Pestilential Fever

Yersinia Pestis Infection

Intestinal Perforation

Perforation Of Intestine

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency

Sepiapterin Reductase Deficiency

Spr Deficiency

Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency

Srd

Drd Due To Srd

Dopa-Responsive Hypersomnia

Dyt-Spr

Dyt/Park-Spr

Sr-Deficient Drd

Autosomal Recessive Sepiapterin Reductase-Deficient Drd

Spr

DRDSPRD

Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency

Psychomotor Disorders

Aromatic L-Amino Acid Decarboxylase Deficiency

Aadc Deficiency

Dopa Decarboxylase Deficiency

Ddc Deficiency

Aromatic Amino Acid Decarboxylase Deficiency

Deficiency Of Aromatic-L-Amino-Acid Decarboxylase

AADCD

Aromatic-L-Amino-Acid Decarboxylase Deficiency

Aromatic L-Amino-Acid Decarboxylase Deficiency

Metachondromatosis

METCDS

MC

Dissociated Nystagmus
Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Oculogyric Crisis
Noonan Syndrome With Multiple Lentigines

Leopard Syndrome

Multiple Lentigines Syndrome

Moynahan Syndrome

Cardiomyopathic Lentiginosis

Progressive Cardiomyopathic Lentiginosis

Cardio-Cutaneous Syndrome

Lentiginosis Profusa

Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome

Generalized Lentiginosis

Gorlin Syndrome Ii

Lentiginosis Profusa Syndrome

Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes

Diffuse Lentiginosis

Nsml

Familial Multiple Lentigines Syndrome

Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type

Progressive Cardiomyopathic Lentiginosis Syndrome

Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan

Schwannoma Of Twelfth Cranial Nerve

Hypoglossal Schwannoma

Schwannoma Of The Twelfth Cranial Nerve

Hypoglossal Nerve Disease

Hypoglossal Nerve Diseases

Disorder Of 12th Nerve

Disorder Of Hypoglossal [12th] Nerve

Disorder Of Hypoglossal Nerve

Disorder Of Xii Nerve

Disorders Of The Twelfth Cranial Nerve

Disorders Of 12th Cranial Nerve

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic

JMML

Leukemia, Juvenile Myelomonocytic, Somatic

Juvenile Chronic Myelomonocytic Leukemia

Juvenile Chronic Myelogenous Leukemia

Leukemia, Myelomonocytic, Juvenile

Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Diabetes Mellitus

Diabetes

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

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
Macaca mulatta PTS VGNC VGNC:76626
Bos taurus PTS VGNC VGNC:33564
Rattus norvegicus PTS RGD RGD:68367
Mus musculus PTS MGD MGI:1338783
Canis familiaris PTS VGNC VGNC:45203
Others PTS NCBI