HBB - hemoglobin subunit beta Gene

Also Known as ECYT6; CD113t-C; beta-globin

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3043

About HBB

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:5,225,464-5,227,071 (from NCBI)

This gene has 6 transcripts (splice variants), 525 orthologues, 11 paralogues and is associated with 28 phenotypes.

Summary

The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult Hemoglobin, Hb A. The normal adult Hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]

HBB Products (1)

mRNA	Protein	Name
NM_000518.5	NP_000509.1	hemoglobin subunit beta

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to haptoglobin binding	IDA IDA: Inferred from direct assay	19740759	GOA
enables hemoglobin binding	IDA IDA: Inferred from direct assay	1512262	GOA
enables oxygen binding	IDA IDA: Inferred from direct assay	11747442	GOA
contributes to peroxidase activity	IDA IDA: Inferred from direct assay	19740759	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	1552945	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in hydrogen peroxide catabolic process	IDA IDA: Inferred from direct assay	19740759	GOA
involved in nitric oxide transport	IDA IDA: Inferred from direct assay	8292032	GOA
involved in oxygen transport	IDA IDA: Inferred from direct assay	11159543	GOA
involved in oxygen transport	IMP IMP: Inferred from mutant phenotype	7518430	GOA
involved in renal absorption	IMP IMP: Inferred from mutant phenotype	18465053	GOA
involved in response to hydrogen peroxide	IDA IDA: Inferred from direct assay	19740759	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	21805676	GOA
part of haptoglobin-hemoglobin complex	IDA IDA: Inferred from direct assay	19740759	GOA
part of hemoglobin complex	IDA IDA: Inferred from direct assay	19740759	GOA
part of hemoglobin complex	IPI IPI: Inferred from physical interaction	8114096	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

HBB Protein Structure

Globin

0
100
147 a.a.

Protein Preferred Names	Protein Names
hemoglobin subunit beta	beta globin chain

HBB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HBB	P68871	HBM	Homo sapiens	Q6B0K9	Validated Y2H	32296183
Intra	HBB	P68871	HBA1	Homo sapiens	P69905	Y2H Prey Pooling	32296183
Intra	HBB	P68871	HBA1	Homo sapiens	P69905	X-Ray Diffraction	1552945
Intra	HBB	P68871	HBZ	Homo sapiens	P02008	Y2H Prey Pooling	32296183
Intra	HBB	P68871	HBZ	Homo sapiens	P02008	Affinity Chrom	11159543
Intra	HBB	P68871	HBZ	Homo sapiens	P02008	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Sickle Cell Anemia	Hemoglobin Sc Disease Anemia, Sickle Cell Hbsc Disease Sickle Cell-Hemoglobin C Disease Syndrome Hb Ss Disease Sickle Cell Trait Drepanocytosis Haemoglobin Sc Disease Hb Sc Disease Hb-S/Hb-C Disease Hb-Ss Disease Without Crisis Hemoglobin S Disease Without Crisis Sickle Cell Anaemia Sickle-Cell/Hb-C Disease Without Crisis Sickle Cell - Hemoglobin C Disease Hbs Disease Hemoglobin S Disease Sickling Disorder Due To Hemoglobin S SKCA Sickle Cell Disease Sickle Cell-Hemoglobin C Disease Sickle-Cell Disease Carrier Sickle-Cell Heterozygous Disorder Haemoglobin A-S Genotype Hb-S - [Sickle Cell Haemoglobin] Carrier Sickle Cell Haemoglobin Trait As - [Sickle Cell Trait] Hbas - [Sickle Cell Haemoglobin Trait] Sickle-Cell Trait Haemoglobin Disease Haemoglobin Sickle Cell Trait Disorder Heterozygous Sickle Cell Trait Hbas - [Heterozygous Haemoglobin S]
Beta-Thalassemia, Dominant Inclusion Body Type	Dominant Beta-Thalassemia Thalassemia-Beta, Dominant Inclusion-Body Dyserythropoietic Anemia, Congenital, Irish Or Weatherall Type Inclusion Body Beta-Thalassemia Beta-Thalassemia, Dominant, Inclusion Body Type B-THALIB Beta Thalassemia Dominant Inclusion Body Type Dyserythropoietic Anemia Congenital Irish Or Weatherall Type Beta-Plus-Thalassemia, Dominant Thalassemia, Beta, Dominant Inclusion Body Type
Fetal Hemoglobin Quantitative Trait Locus 1	Hereditary Persistence Of Fetal Hemoglobin Delta-Beta-Thalassemia Delta-Beta Thalassemia Delta Beta-Thalassemia HBFQTL1 Hemoglobin F, Hereditary Persistence Of Hpfh Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related Hemoglobin, Fetal, Quantitative Trait Locus 1 Hereditary Persistence Of Fetal Hemoglobin Thalassemia Hpfh - [Hereditary Persistence Of Fetal Haemoglobin] Fetal Haemoglobin Persistence Of Fetal Haemoglobin Persistent Haemoglobin F
Beta-Thalassemia	Beta Thalassemia Cooley'S Anemia Mediterranean Anemia Beta Thalassemia Intermedia Erythroblastic Anemia Thalassemia, Hispanic Gamma-Delta-Beta Thalassemia Major Thalassemia Minor Beta-Plus-Thalassemia Thalassemia, Beta Beta Thalassemia Major Beta Thalassemia Minor Thalassemias, Beta- Microcytemia, Beta Type Thalassemia, Beta Type B-THAL Mediterranean Anaemia Beta Thalassaemia Syndrome Mediterranean Disease Beta Thalassaemia Disease
Heinz Body Anemias	Heinz Body Anemia Heinz Body Anemias, Alpha- HEIBAN Anemia, Heinz Body Acquired Heinz Body Anemia
Erythrocytosis, Familial, 6	ECYT6 Erythrocytosis 6 Familial Erythrocytosis 6 Erythrocytosis, Beta-Globin Type Polycythemia, Beta-Globin Type Beta-Globin Type Erythrocytosis Beta-Globin Type Polycythemia
Methemoglobinemia, Beta Type
Methemoglobinemia, Beta-Globin Type	Hemoglobin M Disease Blue Baby Syndrome M Hemoglobinopathy Congenital Methemoglobinemia Autosomal Dominant Methemoglobinemia Hereditary Methemoglobinemia Due To Hemoglobin Mutation
Beta-Thalassemia Major	Cooley'S Anemia Cooley Anemia Mediterranean Anemia
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
Hemoglobin C Disease	Hb C Disease Hemoglobin C Hb-C Disease
Hemoglobin E Disease	Hemoglobin E Hb-E Disease
Hemoglobin D Disease	Hb-D Disease Punjab Disease Los Angeles Disease Hb D Los Angeles Disease Hb D Punjab Disease
Hemoglobin E-Beta-Thalassemia Syndrome	Hemoglobin E/Beta Thalassemia Disease E-Beta-Thalassemia Hbe-Beta-Thalassemia Syndrome
Hemoglobinopathy	Hemoglobinopathies
Sickle Cell Disease	Hbs Disease Hemoglobin S Disease Scd Sickle Cell Disorders Sickling Disorder Due To Hemoglobin S Anemia, Sickle Cell Hb-Ss Disease Without Crisis Hbss Without Crisis Sickle-Cell Anaemia Without Crisis Scd - [Sickle Cell Disease] Sca - [Sickle Cell Anaemia] Sickle Cell Disease Nos Sickle Cell Disorder Sickle Cell Syndrome Sickle-Cell Anaemia Nos Sickle-Cell Disorder Nos Haemoglobin S Disease Haemoglobin Ss Disease Hb S Disease Hb Ss Disease Herrick Anaemia Hereditary Haemoglobinopathy Disorder Homozygous For Haemoglobin S Sickle-Cell Haemoglobin Disease Sickling Disorder Due To Haemoglobin S Hb-Ss Disease With Crisis Sickle Cell Crisis Sickle-Cell Disorder With Crisis Sickle-Cell Anaemia With Crisis Hbss With Crisis Hb S Disease With Mention Of Crisis Haemoglobin Ss Disease With Crisis Hb-Ss Disease With Vaso-Occlusive Pain Vaso-Occlusive Crisis
Hemoglobin Se Disease	Hemoglobin S Anemia, Sickle Cell
Sickle Cell Disease And Related Diseases
Beta-Thalassemia Intermedia
Sickle Beta Thalassemia	Hbs-Beta-Thalassemia Syndrome Sickle Cell-Beta-Thalassemia Disease Syndrome Sickle Cell-Beta-Thalassemia Hb S Beta-Thalassemia Hbs - Beta-Thalassemia Hemoglobin Sickle-Beta Thalassemia Sickle Cell - Beta-Thalassemia Disease Sickle Cell Beta Plus Thalassemia
Hemoglobin C-Beta-Thalassemia Syndrome	C-Beta-Thalassemia Hbc-Beta-Thalassemia Syndrome
Hemoglobin Lepore-Beta-Thalassemia Syndrome	Hblepore-Beta-Thalassemia Syndrome Lepore-Beta-Thalassemia Syndrome
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hpfh-Beta-Thalassemia Syndrome
Sickle Cell - Hemoglobin D Disease	Hbsd Disease Sickle Cell-Hemoglobin D Disease Syndrome Sickle Cell-Hemoglobin D Disease Hemoglobin Sd Disease
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hpfh-Sickle Cell Disease Syndrome
Sickle Cell-Hemoglobin E Disease Syndrome	Hbse Disease
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Autosomal Dominant Secondary Polycythemia	Autosomal Dominant Secondary Erythrocytosis
Thalassemia	Sickle-Cell Thalassemia With Crisis Sickle-Cell Thalassemia Without Crisis Thalassemia Hb-S Disease With Crisis Thalassemia Hb-S Disease Without Crisis Thalassemias Hereditary Leptocytosis Haemoglobin Thalassaemia Disorder Thalassaemia Syndrome Thalassaemia Nos Thalassemia Variants
Thalassemia Minor
Splenic Infarction	Splenic Infarct Splenic Infarcts Infarct Of The Spleen
Acute Chest Syndrome	Acute Chest Syndrome In Sickle Cell Disease
Hypochromic Microcytic Anemia	Anemia, Hypochromic Microcytic Microcytic Hypochromic Anemia
Erythroleukemia
Histiocytosis-Lymphadenopathy Plus Syndrome	H Syndrome Histiocytosis With Joint Contractures And Sensorineural Deafness Faisalabad Histiocytosis Shml Hjcd Rosai-Dorfman Disease Pigmented Hypertrichosis With Insulin-Dependent Diabetes Mellitus Phid Sinus Histiocytosis And Massive Lymphadenopathy Familial Rosai-Dorfman Disease Slc29a3 Spectrum Disorder Sinus Histiocytosis With Massive Lymphadenopathy Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures, And/Or Deafness Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss Rosai-Dorfman Disease, Familial Cutaneous Hyperpigmentation With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures And/Or Deafness Rdd Rosaï-Dorfman Disease Slc29a3 Disorder Destombes-Rosai-Dorfman Disease Rosai-Dorfman-Destombes Disease HLAS Cutaneous Hyperpigmentation With Hypertrichosis Hepatosplenomegaly Heart Anomalies And Hypogonadism With Or Without Hearing Loss Histiocytosis And Lymphadenopathy With Or Without Cutaneous Cardiac And/Or Endocrine Features Joint Contractures And/Or Deafness H Disease Sinus Histiocytosis
Methemoglobinemia
Blood Protein Disease	Blood Protein Disorders Blood Protein Disorder
Plasmodium Falciparum Malaria	Falciparum Malaria Malaria, Falciparum Malaria Fever, Subtertian Malignant Tertian Fever Malaria Falciparum Cerebral Malaria Nos Cerebral Malaria
Glutathione Peroxidase Deficiency	GPXD Hemolytic Anemia Due To Glutathione Peroxidase Deficiency Gluthathione Peroxidase Deficiency
Polycythemia	Erythrocythemia Polycythemia Vera Polycythaemia Due To High Altitude
Splenic Sequestration
Cholelithiasis
Congenital Hemolytic Anemia	Anemia Hemolytic Congenital Anemia, Hemolytic, Congenital Congenital Hemolytic Anaemia Hereditary Hemolytic Anaemia Hereditary Hemolytic Anemia
Kidney Papillary Necrosis	Necrotizing Renal Papillitis Papillary Necrosis Renal Papillitis Necrotizing
Autosomal Dominant Beta Thalassemia	Inclusion Body Beta-Thalassemia
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
Thrombotic Thrombocytopenic Purpura	Purpura, Thrombotic Thrombocytopenic Ttp Thrombotic Thrombocytopenic Purpura, Acquired Idiopathic Thrombotic Thrombocytopenic Purpura Moschcowitz Disease Moschcowitz'S Syndrome Moschowitz Syndrome Chronic Relapsing Thrombotic Thrombocytopenic Purpura Familial Thrombotic Thrombocytopenia Purpura Moschkowitz Disease Purpura Thrombotic Thrombocytopenic Familial Thrombotic Thrombocytopenic Purpura Microangiopathic Hemolytic Anemia Congenital Thrombotic Thrombocytopenic Purpura Autoimmune Thrombotic Thrombocytopenic Purpura Ttp - [Thrombotic Thrombocytopenic Purpura] Moschcowitz Syndrome
Penile Disease	Penile Diseases
Aneruptive Fever	Rickettsia Helvetica Spotted Fever
Hemoglobin H Disease	HBH Hemoglobin H Disease, Nondeletional Hemoglobin H Disease, Deletional Alpha-Thalassemia Intermedia Haemoglobin H Disease Alpha-Thalassemia, Hemoglobin H Type Hemoglobin H Disease, Deletional And Nondeletional Alpha Thalassemia, Haemoglobin H Type Alpha Thalassemia, Hemoglobin H Type Haemoglobin H Disease, Deletional Hbh Disease Alpha-Thalassemia Hemoglobin H Type Hemoglobin H Disease Deletional Hemoglobin H Disease Non-Deletional Alpha-Thalassemia Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia Alpha Thalassaemia Intermedia
Trachoma	Trachoma Dubium Active Stage Trachoma Trachoma, Active Stage Trachoma, Initial Stage Egyptian Ophthalmia Trachoma Pannus Marginal Corneal Pannus Trachomatous Pannus
Diabetes Mellitus	Diabetes
Splenomegaly
Middle Lobe Syndrome
Iron Metabolism Disease	Iron Deficiency Iron Disorder Iron Metabolism Disorders Disorder Of Iron Metabolism Iron Fe Deficiency Iron Storage Disease Iron Storage Disorder
Priapism	Mentulagra Priapism, Familial Idiopathic Familial Idiopathic Priapism Pathologic Erection Painful Erection
Glucosephosphate Dehydrogenase Deficiency	G6pd Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency Deficiency Of Glucose-6-Phosphate Dehydrogenase Glucose 6 Phosphate Dehydrogenase Deficiency Deficiency Of G-6pd G6pdd
Phenylketonuria	Phenylalanine Hydroxylase Deficiency PKU Pah Deficiency Folling Disease Maternal Phenylketonuria Phenylketonurias Oligophrenia Phenylpyruvica Hyperphenylalaninemia, Non-Pku Mild Folling'S Disease Phenylalaninemia Mild Phenylketonuria Mild Pku Variant Pku Variant Phenylketonuria Mpku Deficiency Disease, Phenylalanine Hydroxylase Phenylketonuria, Maternal Phenylalanine Hydroxylase Deficiency Disease Hyperphenylalaninemic Embryopathy Maternal Pku Maternal Hyperphenylalaninemia Phenylketonuric Embryopathy Hyperphenylalaninemia HPA Non-Phenylketonuria Hyperphenylalaninemia NON-PKU HPA Phenylketonuria Maternal Classical Phenylketonuria Hyperphenylalaninaemia Pku - [Phenylketonuria]
Microphthalmia, Syndromic 13	X-Linked Colobomatous Microphthalmia-Microcephaly-Intellectual Disability-Short Stature Syndrome MCOPS13 Maine Microphthalmos Colobomatous Microphthalmia With Microcephaly, Short Stature, And Psychomotor Retardation Syndromic Microphthalmia 13 X-Linked Colobomatous Microphthalmia-Microcephaly-Short Stature-Psychomotor Retardation Syndrome Microphthalmia, Syndromic, 13 Microphthalmia, Syndromic, Type 13
Microcytic Anemia	Iron-Refractory Iron Deficiency Anemia
Erythrocytosis, Familial, 1	ECYT1 Pfcp Primary Familial And Congenital Polycythemia Familial Erythrocytosis 1 Familial Erythrocytosis Polycythemia, Primary Familial And Congenital Autosomal Dominant Benign Erythrocytosis Familial Erythrocytosis Type 1 Congenital Erythrocytosis Due To Erythropoietin Receptor Mutation Congenital Polycythemia Due To Erythropoietin Receptor Mutation Primary Congenital Erythrocytosis Primary Familial Polycythemia Erythrocytosis, Autosomal Dominant Benign Erythrocytosis, Somatic Autosomal Dominant Familial Erythrocytosis-1 Erythrocytosis Autosomal Dominant Benign Familial Primary Polycythemia Familial Erythrocytosis, 1 Erythrocytosis, Familial, Type 1
Febrile Seizures, Familial, 6	FEB6 Familial Febrile Seizures 6 Convulsions, Familial Febrile, 6 Familial Febrile Convulsions 6 Febrile Convulsions, Familial, 6
Hereditary Elliptocytosis	Congenital Elliptocytosis Ovalocytosis Elliptocytosis, Hereditary He Elliptocytosis Hereditary Congenital Ovalocytosis Elliptocytosis Hereditary Elliptocytosis With Infantile Poikilocytosis Hereditary Ovalocytosis Oval Erythrocytosis He - [Hereditary Elliptocytosis] Elliptocytosis Anaemia
Neonatal Anemia	Anemia Neonatal Anemia, Neonatal Anaemia Neonatal Neonatal Anaemia
Tay-Sachs Disease	Hexosaminidase A Deficiency TSD Hexa Deficiency Gm2 Gangliosidosis, Type 1 Hexosaminidase Alpha-Subunit Deficiency Gm2-Gangliosidosis, Several Forms Gm2-Gangliosidosis, B, B1, Ab Variant B Variant Gm2 Gangliosidosis Sphingolipidosis, Tay-Sachs Gm2-Gangliosidosis, Type I B Variant Gm2-Gangliosidosis Hex A Pseudodeficiency Hexa Disorders Beta-Hexosaminidase A Deficiency Gm2 Gangliosidosis, Type I Gangliosidosis Gm2 , Type 1 Gm2 Gangliosidosis, B, B1 Variant Gm2-Gangliosidosis 1 GM2G1 Gm2-Gangliosidosis B Variant Tay-Sachs Disease Pseudo-Ab Variant Tay-Sachs Disease Variant B1 Gangliosidoses, Gm2
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
Physical Disorder	Physical Illness
Erythrocytosis, Familial, 7	ECYT7 Erythrocytosis 7 Familial Erythrocytosis 7 Erythrocytosis, Alpha-Globin Type Polycythemia, Alpha-Globin Type Alpha-Globin Type Erythrocytosis Alpha-Globin Type Polycythemia
Gaucher'S Disease	Gaucher Disease Kerasin Thesaurismosis Glucocerebrosidase Deficiency Glucosylceramidase Deficiency Cerebroside Lipidosis Syndrome Acid Beta-Glucosidase Deficiency Glucosylceramide Beta-Glucosidase Deficiency Acute Cerebral Gaucher Disease Gaucher Splenomegaly Glucocerebrosidosis Glucosyl Cerebroside Lipidosis Kerasin Lipoidosis Lipoid Histiocytosis Glocucerebrosidase Deficiency Sphingolipidosis 1 Gaucher Syndrome Gauchers Disease Gd Glucosylceramide Lipidosis Kerasin Histiocytosis Gaucher Disease, Type 1 Gaucher Disease, Type 2
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
Granulomatous Disease, Chronic, X-Linked	CGDX Chronic Granulomatous Disease, X-Linked X-Linked Chronic Granulomatous Disease Cgd Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked Cdgx X-Linked Chronic Cytochrome B-Negative Granulomatous Disease Chronic Granulomatous Disease Cytochrome B-Negative X-Linked Chronic Granulomatous Disease Cytochrome B-Positive X-Linked Granulomatous Disease, Chronic, X-Linked, Variant
Parasitic Protozoa Infectious Disease	Protozoan Infections Mastigophora Infectious Disease Sarcomastigophora Infectious Disease
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Dehydrated Hereditary Stomatocytosis Hereditary Xerocytosis Xerocytosis, Hereditary Pshk1 Pseudohyperkalemia Edinburgh Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema DHS1 Dhs Hereditary Desiccytosis Dehydrated Hereditary Stomatocytosis 1 Desiccytosis, Hereditary Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak Pseudohyperkalemia Familial 1, Due To Red Cell Leak Desiccytosis Hereditary Xerocytosis Hereditary Familial Pseudohyperkalemia 1 Due To Red Cell Leak Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema Xerocytosis
Factor Viii Deficiency	Autosomal Hemophilia A Hemophilia A Autosomal Factor Viii Deficiency Classic Hemophilia A Congenital Factor Viii Disorder Subhemophilia Factor 8 Deficiency, Congenital Factor Viii
Osteopetrosis, Autosomal Recessive 6	OPTB6 Autosomal Recessive Osteopetrosis 6 Autosomal Recessive Osteopetrosis Intermediate Form Osteopetrosis, Autosomal Recessive, Intermediate Form Osteopetrosis Autosomal Recessive 6 Autosomal Recessive Osteopetrosis Type 6 Osteopetrosis Autosomal Recessive Intermediate Form Intermediate Osteopetrosis Autosomal Recessive Intermediate Osteopetrosis Osteopetrosis, Autosomal Recessive, Type 6
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

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.	상품명	효과	Purity	Rare Diseases
HY-RS06026	HBB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17442	Hbb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23898	Hbb Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HBB	RGD	RGD:2783
Others	HBB	NCBI