1. Gene
  2. ALAS2 - 5'-aminolevulinate synthase 2 Gene

ALAS2 - 5'-aminolevulinate synthase 2 Gene

Homo sapiens

Also known as ASB; ANH1; XLSA; ALASE; XLDPP; XLEPP; ALAS-E; SIDBA1

Gene ID: 212 | Gene type: protein coding

About ALAS2

Cytogenetic location: Xp11.21 Genomic coordinates (GRCh38): X:55,009,055-55,030,977 (from NCBI)

This gene has 9 transcripts (splice variants), 191 orthologues, 5 paralogues and is associated with 4 phenotypes. Restricted expression toward bone marrow (RPKM 181.6).

Summary

The product of this gene specifies an erythroid-specific mitochondrially located Enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ALAS2 Products(3)

mRNA Protein Name
NM_000032.5 NP_000023.2 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform a precursor
NM_001037967.4 NP_001033056.1 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform b precursor
NM_001037968.4 NP_001033057.1 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform c precursor

ALAS2 Protein Structure

Preseq_ALAS

Preseq_ALAS: 5-aminolevulinate synthase presequence (1 - 101)

Aminotran_1_2

Aminotran_1_2: Aminotransferase class I and II (190 - 536)

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  • 587 a.a.
Protein Preferred Names Protein Names

5-aminolevulinate synthase, erythroid-specific, mitochondrial

5-aminolevulinic acid synthase 2

Recombinant ALAS2 Proteins

Cat. No. Product Name Accession Purity
HY-P78950 ALAS2 Protein, Human (His) P22557 (Q50-A587) ≥95%

Related Diseases

Diseases Alias
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

Protoporphyria, Erythropoietic, X-Linked

X-Linked Erythropoietic Protoporphyria

Protoporphyria, Erythropoietic, X-Linked Dominant

Xldpp

XLEPP

Erythrohepatic Protoporphyria, X-Linked

X-Linked Dominant Erythropoietic Protoporphyria

X-Linked Dominant Protoporphyria

Xlpp

Erythropoietic Protoporphyria, X-Linked Dominant

XLDPT

X-Linked Protoporphyria
Sideroblastic Anemia

Anemia Sideroblastic

Anemia, Sideroblastic

Anemia, Hypochromic With Iron Loading

Pyridoxine-Responsive Sideroblastic Anemia
Microcytic Anemia

Iron-Refractory Iron Deficiency Anemia

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

Wieacker-Wolff Syndrome

Wieacker Syndrome

Contractures Of Feet, Muscle Atrophy, And Oculomotor Apraxia

WRWF

Apraxia, Oculomotor, With Congenital Contractures And Muscle Atrophy

Miles-Carpenter X-Linked Mental Retardation Syndrome

Mcs

Mrxs4

Intellectual Disability-Developmental Delay-Contractures Syndrome

Mental Retardation, X-Linked, Syndromic 4

Mental Retardation, X-Linked, With Congenital Contractures And Low Fingertip Arches

Wws

Wieacker Wolff Syndrome

Foot Contractures-Muscle Atrophy-Oculomotor Apraxia Syndrome

Wieacker-Wolf Syndrome

Oculomotor Apraxia With Congenital Contractures And Muscle Atrophy

Cutaneous Porphyria

Porphyria, Erythropoietic

Erythropoietic Porphyria

Non-Syndromic X-Linked Intellectual Disability 81

Mrx81

Erythroleukemia
Protoporphyria, Erythropoietic, 1

Erythropoietic Protoporphyria

Epp

Ferrochelatase Deficiency

Protoporphyria, Erythropoietic

Erythrohepatic Protoporphyria

Heme Synthetase Deficiency

Autosomal Erythropoietic Protoporphyria

EPP1

Protoporphyria

Protoporphyria Erythropoietic

Macrocytic Anemia

Anemia Macrocytic

Anemia, Macrocytic

Macrocytic Anaemia

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Anemia, Sideroblastic, And Spinocerebellar Ataxia

X-Linked Sideroblastic Anemia With Ataxia

ASAT

X-Linked Sideroblastic Anemia And Ataxia

X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia

Anemia, Sideroblastic, With Ataxia

Anemia Sideroblastic And Spinocerebellar Ataxia

Pagon Bird Detter Syndrome

Pagon-Bird-Detter Syndrome

Xlsa-A

X-Linked Sideroblastic Anaemia And Ataxia

X-Linked Sideroblastic Anaemia With Ataxia

Sideroblastic Anemia With Spinocerebellar Ataxia

Xlsa/A

Anemia, Sideroblastic, Spinocerebellar Ataxia

Sideroblastic Anemia And Ataxia

Anemia Sideroblastic, And Spinocerebellar Ataxia

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]

Acute Porphyria

Porphyrias, Hepatic

Hepatic Porphyria

Porphyria Hepatic

Acute Intermittent Porphyria

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

Carotenemia

Hypercarotinemia

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]

Hypochromic Microcytic Anemia

Anemia, Hypochromic Microcytic

Microcytic Hypochromic Anemia

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

Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis

Hyperferritinemia With Or Without Cataract

Hyperferritinemia-Cataract Syndrome

Hhcs

Hereditary Hyperferritinemia With Congenital Cataracts

Hyperferritinemia, Hereditary, With Congenital Cataracts

Bonneau-Beaumont Syndrome

HRFTC

Hereditary Hyperferritinemia-Cataract Syndrome

Cataract-Hyperferritinemia Syndrome

Hyperferritinemia Cataract Syndrome

Hereditary Hyperferritinemia Cataract Syndrome

Pearson Marrow-Pancreas Syndrome

Pearson Syndrome

Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction

Pearson'S Marrow/Pancreas Syndrome

Pearson'S Syndrome

Pearson'S Marrow-Pancreas Syndrome

Acute Erythroid Leukemia

Acute Erythroleukemia

Di Guglielmo'S Syndrome

Aml M6

Acute Myeloid Leukemia Fab-M6

Acute Myeloid Leukemia M6

Erythroleukemia

Aml-M6

Acute Erythroleukemia M6a Subtype

Acute Erythroleukemia M6b Subtype

Di Guglielmo Syndrome

Acute Myeloid Leukemia, M6 Type

Acute Erythroblastic Leukemia

Acute Erythroleukemia - M6a Subtype

Acute Erythroleukemia - M6b Subtype

Acute Erythraemia And Erythroleukaemia

Acute Erythroid Leukaemia Without Mention Of Remission

Erythraemia

Erythraemic Myelosis

Erythroleukaemia

Acute Erythraemic Myelosis

Acute Erythraemia

Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay

SIFD

Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome

Sifd Syndrome

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Hemoglobinopathy

Hemoglobinopathies

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

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
Mus musculus ALAS2 MGD MGI:87990
Felis catus ALAS2 VGNC VGNC:59733
Rattus norvegicus ALAS2 RGD RGD:2084
Bos taurus ALAS2 VGNC VGNC:25804
Macaca mulatta ALAS2 VGNC VGNC:69781
Canis familiaris ALAS2 VGNC VGNC:37777
Others ALAS2 NCBI