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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 5-aminolevulinate synthase activity	IDA IDA: Inferred from direct assay	14643893	GOA
enables 5-aminolevulinate synthase activity	IMP IMP: Inferred from mutant phenotype	21252495	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10727444	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in response to hypoxia	IDA IDA: Inferred from direct assay	16234850	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	14643893	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	10727444	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

ALAS2 Protein Structure

Preseq_ALAS

Aminotran_1_2

0
100
200
300
400
500
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00555	ALAS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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