PCBD1 - pterin-4 alpha-carbinolamine dehydratase 1 Gene

Homo sapiens

Also known as PCD; PHS; DCOH; PCBD

Gene ID: 5092 | Gene type: protein coding

About PCBD1

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:70,882,280-70,888,565 (from NCBI)

This gene has 3 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 47.7), kidney (RPKM 31.6) and 25 other tissues.

Summary

This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this Enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

PCBD1 Products(3)

mRNA	Protein	Name
NM_000281.4	NP_000272.1	pterin-4-alpha-carbinolamine dehydratase isoform 1
NM_001289797.2	NP_001276726.1	pterin-4-alpha-carbinolamine dehydratase isoform 3
NM_001323004.2	NP_001309933.1	pterin-4-alpha-carbinolamine dehydratase isoform 2

PCBD1 Protein Structure

Pterin_4a

0
104 a.a.

Protein Preferred Names

Protein Names

pterin-4-alpha-carbinolamine dehydratase

4-alpha-hydroxy-tetrahydropterin dehydratase

Recombinant PCBD1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71203	PHS Protein, Human (His)	P61457 (A2-T104)	≥95%

Related Diseases

Diseases

Alias

Hyperphenylalaninemia, Bh4-Deficient, D

Hyperphenylalaninemia With Primapterinuria	Cadh Deficiency
Pcbd Deficiency	HPABH4D
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency	Tetrahydrobiopterin -Deficient Hyperphenylalaninemia Due To Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency
Hyperphenylalaninemia Due To Dehydratase Deficiency	Hyperphenylalaninemia Due To Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Bh4-Deficient Hyperphenylalaninemia D
Dehydratase Deficiency	Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Phs Deficiency
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency	Phs Deficiency
Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency	Hyperphenylalaninemia, Bh4-Deficient, Type D

Hyperphenylalaninemia

Hyperphenylalaninaemia

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

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

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

Vitiligo	VAMAS1
Slev1	Vtlg
Systemic Lupus Erythematosus, Vitiligo-Related	Vitiligo-Associated Multiple Autoimmune Disease 1
Systemic Lupus Erythematosus Vitiligo-Related

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]

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

Pentosuria

Xylitol Dehydrogenase Deficiency	L-Xylulosuria
L-Xylulose Reductase Deficiency	Essential Pentosuria
PNTSU	Essential Benign Pentosuria

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

Maturity-Onset Diabetes Of The Young, Type 3

Maturity-Onset Diabetes Of The Young Type 3	MODY3
Mody, Type Iii	Mody Type 3
Mody, Type 3	Maturity-Onset Diabetes Of The Young 3
Mody-3	Diabetes Of The Young, Maturity-Onset, Type 3

Brunner Syndrome

Monoamine Oxidase A Deficiency	Antisocial Behavior
BRNRS	Deficiency Of Monoamine Oxidase A
X-Linked Monoamine Oxidase Deficiency	Susceptibility To Antisocial Behavior
Antisocial Behavior, Susceptibility To	Anti-Social Behavior

Dopamine Beta-Hydroxylase Deficiency

Noradrenaline Deficiency	Norepinephrine Deficiency
Dopamine Beta Hydroxylase Deficiency	Congenital Dopamine Beta-Hydroxylase Deficiency
Dopamine Beta-Hydroxylase Deficiency, Congenital	Dopamine Β-Hydroxylase
Dbh Deficiency

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10113	PCBD1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PCBD1	VGNC	VGNC:75772
Bos taurus	PCBD1	VGNC	VGNC:32612
Felis catus	PCBD1	VGNC	VGNC:68711
Canis familiaris	PCBD1	VGNC	VGNC:44291
Rattus norvegicus	PCBD1	RGD	RGD:3263
Mus musculus	PCBD1	MGD	MGI:94873

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