ALAD - aminolevulinate dehydratase Gene

Also Known as PBGS; ALADH

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 210

About ALAD

Cytogenetic location: 9q32 Genomic coordinates (GRCh38): 9:113,386,312-113,401,284 (from NCBI)

This gene has 9 transcripts (splice variants), 202 orthologues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 60.0), liver (RPKM 56.7) and 25 other tissues.

Summary

The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and Other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

ALAD Products (3)

mRNA	Protein	Name
NM_000031.6	NP_000022.3	delta-aminolevulinic acid dehydratase isoform b
NM_001003945.3	NP_001003945.1	delta-aminolevulinic acid dehydratase isoform a
NM_001317745.2	NP_001304674.1	delta-aminolevulinic acid dehydratase isoform c

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	11032836	GOA
enables porphobilinogen synthase activity	IDA IDA: Inferred from direct assay	8175643	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	11032836	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in heme biosynthetic process	IDA IDA: Inferred from direct assay	11032836	GOA
involved in negative regulation of proteasomal protein catabolic process	IDA IDA: Inferred from direct assay	8175643	GOA
involved in protein homooligomerization	IPI IPI: Inferred from physical interaction	11032836	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

ALAD Protein Structure

ALAD

0
100
200
300
330 a.a.

Protein Preferred Names	Protein Names
delta-aminolevulinic acid dehydratase	aminolevulinate, delta-, dehydratase

Related Diseases

Diseases	Alias
Porphyria, Acute Hepatic	Porphobilinogen Synthase Deficiency Lead Poisoning Delta-Aminolevulinate Dehydratase Deficiency Alad Deficiency Doss Porphyria Acute Hepatic Porphyria Porphyria, Alad Lead Poisoning, Susceptibility To Lead Intoxication Plumbism Saturnism Porphyria Due To Ala Dehydratase Deficiency Alad Porphyria Porphyria Due To Alad Deficiency Porphyria Due To Delta-Aminolevulinate Dehydratase Deficiency Porphyria Of Doss Porphyria, Ala-D AHEPP Porphyria Alad
Porphyria	Hematoporphyria Porphyrias Disorder Of Porphyrin And Hem Metabolism Disorder Of Porphyrin Metabolism Porphyrinopathy Porphyrin Disorder Disorder Of Porphyrin And Heme Metabolism Disorders Of Porphyrin Metabolism
Porphyria Cutanea Tarda	Hepatoerythropoietic Porphyria HEP Uroporphyrinogen Decarboxylase Deficiency Pct Pct, Type Ii Porphyria, Hepatocutaneous Type Urod Deficiency Porphyria, Hepatoerythropoietic Porphyria Cutanea Tarda, Susceptibility To Familial Porphyria Cutanea Tarda Porphyria Cutanea Tarda, Type Ii Pct, 'Familial' Type Porphyria, Hepatic FPCT Pct Type Ii Porphyria Cutanea Tarda Type Ii Porphyria Hepatocutaneous Type Heterozygous Uroporphyrinogen Decarboxylase Deficiency Urod - [Uroporphyrinogen Decarboxylase] Deficiency Pct - [Porphyria Cutanea Tarda]
Tyrosinemia, Type I	Tyrosinemia Type I Hepatorenal Tyrosinemia Fumarylacetoacetase Deficiency Fah Deficiency TYRSN1 Fumarylacetoacetate Hydrolase Deficiency Tyrosinemia Type 1 Tyrosinemia 1 Fumarylacetoacetase
Variegate Porphyria	Porphyria Variegata Protoporphyrinogen Oxidase Deficiency VP Ppox Deficiency Porphyria, South African Type Porphyria Variegata, Susceptibility To Protocoproporphyria Porphyria Variegate Porphyria South African Type Pv Porphyria, Variegate Vp - [Variegate Porphyria]
Porphyria, Acute Intermittent	Acute Intermittent Porphyria Porphobilinogen Deaminase Deficiency Pbgd Deficiency AIP Porphyria, Swedish Type Uroporphyrinogen Synthase Deficiency Ups Deficiency Porphyria, Acute Intermittent, Nonerythroid Variant Hydroxymethylbilane Synthase Deficiency Aip - Acute Intermittent Porphyria Porphyria Intermittent Acute Pyrroloporphyria Hmbs Deficiency Porphyria Acute Intermittent
Tyrosinemia	Hypertyrosinemia Tyrosinemias Hereditary Tyrosinemia Hypertyrosinaemia Tyrosinaemia Hereditary Hypertyrosinemia
Coproporphyria, Hereditary	Hereditary Coproporphyria Coproporphyria Coproporphyrinogen Oxidase Deficiency HCP Cpo Deficiency Cpox Deficiency Cpx Deficiency Hereditary Coproporphyria Porphyria Cpro Deficiency Coproporphyria Hereditary Porphyria Hepatica Ii Porphyria Hepatica Coproporphyria Porphyria, Hereditary Coproporphyria Harderoporphyria
Acute Porphyria	Porphyrias, Hepatic Hepatic Porphyria Porphyria Hepatic Acute Intermittent Porphyria
Danubian Endemic Familial Nephropathy	Balkan Nephropathy Balkan Endemic Nephropathy Nephropathia Epidemica Defn Ben Aristolochic Acid Nephropathy Aan Endemic Nephropathy Balkan Balkan Nephritis
Porphyria, Congenital Erythropoietic	Congenital Erythropoietic Porphyria Gunther Disease CEP Uros Deficiency Günther Disease Uroporphyrinogen Iii Synthase Deficiency Congenital Porphyria Uroporphyrinogen Iii Synthase, Deficiency Of Porphyria, Erythropoietic, Congenital Porphyria, Erythropoietic Deficiency Of Uroporphyrinogen Iii Synthase
Anemia, Sideroblastic, 1	Xlsa X-Linked Sideroblastic Anemia Hypochromic Anemia Anh1 Hereditary Iron-Loading Anemia Anemia, Sideroblastic, X-Linked Anemia, Hereditary Sideroblastic Erythroid 5-Aminolevulinate Synthase Deficiency Hereditary Sideroblastic Anemia SIDBA1 Anemia, Hypochromic Sideroblastic Anemia 1 Anemia Hypochromic X Chromosome-Linked Sideroblastic Anemia Sideroblastic Anaemia 1 X-Linked Sideroblastic Anaemia Anemia Hereditary Sideroblastic Anemia Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anemia Sideroblastic Anemia X-Linked Anemia, Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anaemia X-Linked Pyridoxine-Responsive Sideroblastic Anemia Anemia Congenital Sideroblastic Anemia, Sideroblastic, Type 1 Sex-Linked Hypochromic Sideroblastic Anaemia Autosomal Recessive Sideroblastic Anaemia Familial Sex Linked Hypochromic Anaemia
Cutaneous Porphyria	Porphyria, Erythropoietic Erythropoietic Porphyria
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Protoporphyria, Erythropoietic, 1	Erythropoietic Protoporphyria Epp Ferrochelatase Deficiency Protoporphyria, Erythropoietic Erythrohepatic Protoporphyria Heme Synthetase Deficiency Autosomal Erythropoietic Protoporphyria EPP1 Protoporphyria Protoporphyria Erythropoietic
Essential Tremor	Benign Essential Tremor Familial Tremor Hereditary Essential Tremor Essential Hereditary Tremor Shaky Hand Syndrome Benign Essential Tremor Syndrome Tremor Hereditary Essential Essential Tremor, Susceptibility To Tremor, Hereditary Essential
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Fowler Syndrome Encephaloclastic Proliferative Vasculopathy Hydrocephaly/Hydranencephaly Due To Cerebral Vasculopathy PVHH Epv Cerebral Proliferative Glomeruloid Vasculopathy Hydranencephaly, Fowler Type Proliferative Vasculopathy And Hydranencephaly/Hydrocephaly Fowler'S Syndrome Fowler Christmas Chapple Syndrome Fowler Vasculopathy Polycystic Ovaries Urethral Sphincter Dysfunction Voiding Dysfunction And Polycystic Ovaries Fowler Vasculopaty Hydranencephaly Fowler Type Pgv Polycystic Ovaries-Urethral Sphincter Dysfunction Syndrome
Hantavirus Hemorrhagic Fever With Renal Syndrome	Hemorrhagic Fever, Russian Hemorrhagic Nephrosonephritis Hfrs Puumala Virus Nephropathy Hemorrhagic Fever With Renal Syndrome
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Malaria	Malaria, Susceptibility To Malaria, Resistance To Malaria, Cerebral Cerebral Malaria Malaria, Severe, Susceptibility To Malaria, Severe, Resistance To Malaria, Cerebral, Susceptibility To Induced Malaria Malaria, Vivax, Protection Against Malaria, Severe Malaria, Cerebral, Reduced Risk Of Malaria, Protection Against Resistance To Malaria Due To G6pd Deficiency Malaria Due To G6pd Deficiency Malarial Encephalitis CM Malaria Cerebral Susceptibility To Malaria Acute Pernicious Fever Aestivo-Autumnal Fever Aestivo Autumnal Malaria Chagres Fever Continued Malaria Fever Estivo-Autumnal Fever Estivo-Autumnal Malaria Estivo-Autumnal Malarial Fever Falciparum Fever Malignant Tertian Fever Malignant Tertian Malaria Pernicious Intermittent Fever Pernicious Malaria Quotidian Malaria Subtertian Fever Subtertian Malaria Fever Subtertian Malignant Tertian Malaria Tropical Malaria Algid Malaria Bilious Haemoglobinuric Fever Black Water Fever Blackwater Fever Malarial Blackwater Fever Severe Malarial Falciparum West African Fever Malarial Haematinuria Haemoglobinuric Fever Haemoglobinuric Malaria Severe Plasmodium Falciparum Malaria Malarial Haemoglobinuria Malarial Haematuria Falciparum Malaria [Malignant Tertian] Malaria Tropica Malarial Shock Chagres Virus Disease Malignant Malaria Mtm - [Malignant Tertian Malaria] Tm -[Malignant Tertian Malaria] Panama Fever St - [Subtertian Malaria] Malarial Quotidian Benign Tertian Malaria Tertian Ague Vivax Fever Plasmodium Vivax Malaria Nos Btm - [Benign Tertian Malaria] Bt - [Benign Tertian Malaria] Vivax Malaria Benign Tertian Vivax Malaria Tertian Malaria Quartan Malaria Quartan Ague Quartan Fever Plasmodium Malariae Malaria Nos Quartan Malarial Malaria By Plasmodium Malariae Malariae Malaria Ovale Tertian Malaria Plasmodium Ovale Fever Malaria Fever By Plasmodium Ovale Ovale Malaria Malaria By Plasmodium Ovale Malarial Ovale Marsh Fever Remittent Congestive Fever Coastal Fever Remittent Gastric Fever Miasmatic Fever Congestive Remittent Fever Intermittent Fever Jungle Fever Paludism Cameroon Fever Ague Corsican Fever Intermittent Bilious Fever Disease Due To Plasmodiidae Malarial Fever Plasmodiosis Remittent Fever Roman Fever Malaria Fever Nos Malaria Nos Paludal Fever Clinically Diagnosed Malaria Clinically Diagnosed Malaria Without Parasitological Confirmation Congestive Fever Malarial Cachexia Marsh Cachexia Paludal Cachexia Recurrent Malaria Remittent Malaria
Meningioma, Familial	Meningioma Familial Meningioma Meningioma, Familial, Susceptibility To Meningeal Neoplasm Meningeal Neoplasms Meningiomas Meningioma, Nf2-Related, Somatic Meningioma, Sis-Related Meningothelial Cell Tumor Neoplasm Of The Meninges Primary Meningeal Tumor Familial Multiple Meningioma MNGMA Meningioma, Benign, No Icd-O Subtype Intracranial Meningioma Meningothelial Cell Neoplasm Supratentorial Meningioma Primary Neoplasm Of Spinal Meninges Benign Intracranial Meningioma Benign Meningioma Meningeal Tumours Meningeal Sarcoma Of Unspecified Site Meningothelial Sarcoma Of Unspecified Site
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00553	ALAD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17104	Alad Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23548	Alad Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ALAD	VGNC	VGNC:25802
Mus musculus	ALAD	MGD	MGI:96853
Canis familiaris	ALAD	VGNC	VGNC:37775
Rattus norvegicus	ALAD	RGD	RGD:2083
Felis catus	ALAD	VGNC	VGNC:59731
Macaca mulatta	ALAD	VGNC	VGNC:69779
Others	ALAD	NCBI