1. Gene
  2. ALAD - aminolevulinate dehydratase Gene

ALAD - aminolevulinate dehydratase Gene

Homo sapiens

Also known as PBGS; ALADH

Gene ID: 210 | Gene type: protein coding

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

ALAD Protein Structure

ALAD

ALAD: Delta-aminolevulinic acid dehydratase (5 - 327)

  • 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

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
Macaca fascicularis ALAD NCBI
Others ALAD NCBI