DDC - dopa decarboxylase Gene

Also Known as AADC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1644

About DDC

Cytogenetic location: 7p12.2-p12.1 Genomic coordinates (GRCh38): 7:50,458,442-50,565,405 (from NCBI)

This gene has 14 transcripts (splice variants), 221 orthologues, 7 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 112.5), small intestine (RPKM 59.9) and 5 other tissues.

Summary

The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and Catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011]

DDC Products (7)

mRNA	Protein	Name
NM_000790.4	NP_000781.2	aromatic-L-amino-acid decarboxylase isoform 1
NM_001082971.2	NP_001076440.2	aromatic-L-amino-acid decarboxylase isoform 1
NM_001242886.2	NP_001229815.2	aromatic-L-amino-acid decarboxylase isoform 2
NM_001242887.2	NP_001229816.2	aromatic-L-amino-acid decarboxylase isoform 3
NM_001242888.2	NP_001229817.2	aromatic-L-amino-acid decarboxylase isoform 4
NM_001242889.2	NP_001229818.2	aromatic-L-amino-acid decarboxylase isoform 5
NM_001242890.2	NP_001229819.2	aromatic-L-amino-acid decarboxylase isoform 6

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables 5-hydroxy-L-tryptophan decarboxylase activity	IDA IDA: Inferred from direct assay	16338639	GOA
enables L-dopa decarboxylase activity	IDA IDA: Inferred from direct assay	19703902	GOA
enables aromatic-L-amino-acid decarboxylase activity	IDA IDA: Inferred from direct assay	16338639	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	19703902	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12864730	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in dopamine biosynthetic process	IDA IDA: Inferred from direct assay	19703902	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

DDC Protein Structure

Pyridoxal_deC

0
100
200
300
400
480 a.a.

Protein Preferred Names	Protein Names
aromatic-L-amino-acid decarboxylase	dopa decarboxylase (aromatic L-amino acid decarboxylase)

DDC Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82683	DOPA Decarboxylase Antibody (YA2428)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	APS1 Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Apeced Pga I Hypoadrenocorticism With Hypoparathyroidism And Superficial Moniliasis Autoimmune Polyendocrinopathy Syndrome , Type I, With Or Without Reversible Metaphyseal Dysplasia Polyglandular Autoimmune Syndrome, Type 1 Autoimmune Polyglandular Syndrome Type 1 Autoimmune Polyendocrine Syndrome Type 1 Autoimmune Polyendocrinopathy Syndrome Type 1 Whitaker Syndrome Aps Type 1 Polyglandular Type I Autoimmune Syndrome Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome Aps I Autoimmune Polyglandular Syndrome, Type I Polyglandular Autoimmune Syndrome, Type I Aps 1 Autoimmune Polyglandular Syndrome Type I Pga 1 Pga-I Polyglandular Autoimmune Syndrome Type 1 Type I Polyglandular Autoimmune Syndrome Aire Deficiency Autoimmune Polyendocrinopathy With Candidiasis And Ectodermal Dystrophy Autoimmune Polyglandular Syndrome, Type 1 Autoimmune Polyendocrinopathy Type 1 Apeced Syndrome Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison Disease Syndrome Ham Syndrome Hypoparathyroidism-Addison Disease-Mucocutaneous Candidiasis Syndrome Medac Syndrome Multiple Endocrine Deficiency-Addison Disease-Candidiasis Syndrome Autoimmune Polyendocrine Syndrome 1, With Or Without Reversible Metaphyseal Dysplasia Aps-1 Autoimmune Polyendocrine Syndrome Type I Autoimmune Polyendocrinopathy Syndrome Type I Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I Polyglandular Autoimmune Syndrome Type I Polyglandular Deficiency Syndrome Persian-Jewish Type Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant Polyendocrinopathy Autoimmune, Type 1, With/Without Reversible Metaphyseal Dysplasia
Oculogyric Crisis
Hypoadrenocorticism, Familial	Addison Disease Primary Adrenocortical Insufficiency Addison'S Disease Adrenal Gland Hypofunction Adrenal Hypoplasia Adrenal Aplasia Addison Disease, Chronic Adrenal Insufficiency Primary Hypoadrenalism Hypoadrenocorticism Familial Autoimmune Addison Disease Autoimmune Adrenalitis Classic Addison Disease Primary Addison Disease Addisons Disease Addison Disease, Susceptibility To Autoimmune Primary Adrenal Insufficiency Addison'S Disease Due To Autoimmunity
Autoimmune Hepatitis	Aih Hepatitis, Autoimmune Autoimmune Chronic Active Hepatitis Autoimmune Hepatitis With Centrilobular Necrosis Autoimmune Chronic Hepatitis Hepatitis Autoimmune
Pure Autonomic Failure	Orthostatic Hypotension Idiopathic Orthostatic Hypotension Postural Hypotension Bradbury-Eggleston Syndrome Bradbury Eggleston Syndrome Hypotension, Orthostatic Hypotension, Postural Paf Pure Dysautonomia Pure Idiopatic Dysautonomia Hypotension Orthostatic Primary Orthostatic Hypotension Chronic Orthostatic Hypotension
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
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Parkinsonism	Parkinsonism-Plus Idiopathic Parkinsonism Primary Parkinsonism Paralysis Agitans Syndrome Parkinsonian Syndrome Trembling Paralysis Paralysis Agitans Shaking Palsy Shaking Paralysis
Pheochromocytoma	Pheochromocytoma, Susceptibility To Phaeochromocytoma Adrenal Gland Chromaffin Paraganglioma Adrenal Gland Chromaffinoma Adrenal Gland Paraganglioma Adrenal Gland Pheochromocytoma Chromaffin Paraganglioma Of The Adrenal Gland Intraadrenal Paraganglioma PCC Chromaffin Cell Tumor Medullary Chromaffinoma Medullary Paraganglioma Pheochromoblastoma Pheochromocytomas Chromaffin Cell Neoplasm Pheochromocytoma, Malignant
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
Movement Disease	Movement Disorders Movement Disorder
Personality Disorder	Personality Disorders Character Disorder Personality Specific Personality Disorders Enduring Personality Change After Psychiatric Illness
Fabry Disease	Alpha-Galactosidase A Deficiency Anderson-Fabry Disease Angiokeratoma Corporis Diffusum Ceramide Trihexosidase Deficiency Fabry Disease, Cardiac Variant Fabry'S Disease Hereditary Dystopic Lipidosis Gla Deficiency FD Alpha Galactosidase Deficiency Deficiency Of Melibiase Angiokeratoma, Diffuse Angiokeratoma Diffuse Diffuse Angiokeratoma
Dissociated Nystagmus
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
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Pnpo Deficiency Pyridoxamine 5'-Phosphate Oxidase Deficiency Pnpo-Related Neonatal Epileptic Encephalopathy Pyridoxal Phosphate-Responsive Seizures Pyridoxal 5'-Phosphate-Dependent Epilepsy Pyridoxine-5'-Phosphate Oxidase Deficiency PNPOD Seizures, Pyridoxine-Resistant, Plp-Sensitive Pyridoxal Phosphate-Dependent Seizures Pyridoxamine 5'-Oxidase Deficiency Epileptic Encephalopathy, Neonatal, Pnpo-Related Pyridox Ine 5'-Phosphate Oxidase Deficiency Deficiency, Pyridoxamine 5'-Phosphate Oxidase
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Paraganglioma	Chemodectoma Glomus Body Tumor Paragangliomas Carotid Body Paraganglioma Extra-Adrenal Paraganglioma
Canavan Disease	Aspartoacylase Deficiency Aminoacylase 2 Deficiency Spongy Degeneration Of Central Nervous System Aspa Deficiency Acy2 Deficiency Canavan-Van Bogaert-Bertrand Disease Mild Canavan Disease Asp Deficiency Spongy Degeneration Of The Central Nervous System Severe Canavan Disease Von Bogaert-Bertrand Disease Canavan'S Disease Spongy Degeneration Of The Brain Juvenile Canavan Disease Infantile Canavan Disease Neonatal Canavan Disease CAND Disease, Canavan Canavan Disease, Juvenile Canavan Disease, Infantile Canavan Disease, Neonatal
Hyperinsulinism	Hyperinsulinemia
Impulse Control Disorder	Disruptive, Impulse Control, And Conduct Disorders
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Focal Dystonia	Dystonia, Focal, Task-Specific
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Vascular Parkinsonism
Autoimmune Disease	Autoimmune Diseases Autoimmune Hypersensitivity Disease Hypersensitivity Reaction Type Ii Disease Type Ii Hypersensitivity Reaction Disease
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Spinal Muscular Atrophy, Type I	Werdnig-Hoffmann Disease SMA1 Spinal Muscular Atrophy 1 Sma I Sma, Infantile Acute Form Muscular Atrophy, Infantile Spinal Muscular Atrophy-1 Hmn Proximal Type I Infantile Muscular Atrophy Proximal Spinal Muscular Atrophy Type 1 Sma Type 1 Sma Type I Sma-I Hereditary Motor Neuropathy Proximal Type I Progressive Muscular Atrophy Of Infancy Proximal Spinal Muscular Atrophy, Type 1 Werdnig Hoffmann Disease Infantile Spinal Muscular Atrophy Infantile-Onset Spinal Muscular Atrophy Proximal Hereditary Motor Neuropathy Type I Sma Infantile Acute Form Spinal Muscular Atrophy Type I Werdnig-Hoffman Disease Atrophy, Muscular, Spinal, Type 1
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Ewing Sarcoma	Neuroepithelioma Ewing'S Tumor Primitive Neuroectodermal Tumor Ewings Sarcoma Ewing'S Sarcoma Peripheral Neuroepithelioma ES Ewings Sarcoma-Primitive Neuroectodermal Tumor Localized Peripheral Primitive Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Tumor Ewing Tumor Sarcoma, Ewing'S Ewing Family Of Tumors Extraosseous Ewing Tumor Askin Tumor Ewing'S Family Localized Tumor Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing Sarcoma Localized Ewing'S Sarcoma Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing'S Tumor Pnet Of Thoracopulmonary Region Tumor Of The Ewing Family Skeletal Ewing Sarcoma Osseous Ewing Sarcoma Ppnet Peripheral Pnet Extraskeletal Ewing Sarcoma Eoe Extraosseous Ewing Sarcoma Extraskeletal Ewing Tumor Esft Ewing Sarcoma Family Of Tumors Pne Pnet Pnet Of The Chest Wall Sarcoma, Ewing Neuroectodermal Tumors, Primitive, Peripheral Neuroectodermal Tumor, Primitive Disorder Of Eye Askin'S Tumor Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor Neuroepithelioma, Peripheral
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

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

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-17392	Zalcitabine	Inhibitor	99.81%	Yes

Pre-clinical Phase

Bioactive Molecules (15)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-118594	Diethyl 2,4,6-trimethyl-1,4-dihydropyridine-3,5-dicarboxylate	Inhibitor	99.83%	Unkown
HY-139997	DDC-01-163	Degrader	99.05%	Unkown
HY-151048	JBJ-07-149	Inhibitor	99.09%	Unkown
HY-156179	DDC 2′,3′-O-disulfate	Inhibitor	/	Unkown
HY-156180	DDC 3′-O-β-D glucuronide		/	Unkown
HY-163203	DDC18-8A	Inhibitor	/	Unkown
HY-163461	4F-DDC	Inhibitor	/	Unkown
HY-170351	NH2-PEG2-OMs		/	Unkown
HY-RS03608	DDC Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-170350	Pomalidomide-PEG2-OMs		/	Unkown
HY-180325	DDC4002	Inhibitor	/	Unkown
HY-RS16935	Ddc Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23378	Ddc Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W393396	3'-NH2-ddC		/	Unkown
HY-W784611	3'-NH-Tr-2',3'-ddC(Bz)-5'-CE-Phosphoramidite		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	DDC	VGNC	VGNC:55748
Mus musculus	DDC	MGD	MGI:94876
Canis familiaris	DDC	VGNC	VGNC:39831
Felis catus	DDC	VGNC	VGNC:61388
Macaca mulatta	DDC	VGNC	VGNC:71755
Rattus norvegicus	DDC	RGD	RGD:2494
Others	DDC	NCBI