GMPPB - GDP-mannose pyrophosphorylase B Gene

Also Known as LGMDR19; MDDGA14; MDDGB14; MDDGC14

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 29925

About GMPPB

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,719,916-49,723,951 (from NCBI)

This gene has 9 transcripts (splice variants), 196 orthologues, 3 paralogues and is associated with 9 phenotypes. Ubiquitous expression in thyroid (RPKM 16.4), prostate (RPKM 14.9) and 25 other tissues.

Summary

This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]

GMPPB Products (2)

mRNA	Protein	Name
NM_013334.4	NP_037466.3	mannose-1-phosphate guanyltransferase beta isoform 1
NM_021971.4	NP_068806.2	mannose-1-phosphate guanyltransferase beta isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables mannose-1-phosphate guanylyltransferase (GTP) activity	EXP EXP: Inferred from Experiment	33986552	GOA
enables mannose-1-phosphate guanylyltransferase (GTP) activity	IDA IDA: Inferred from direct assay	33986552	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in GDP-mannose biosynthetic process	IMP IMP: Inferred from mutant phenotype	26310427	GOA
involved in GDP-mannose metabolic process	IDA IDA: Inferred from direct assay	33986552	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of GDP-mannose pyrophosphorylase complex	IDA IDA: Inferred from direct assay	33986552	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	23768512	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

GMPPB Protein Structure

NTP_transferase

Hexapep

0
100
200
300
360 a.a.

Protein Preferred Names	Protein Names
mannose-1-phosphate guanyltransferase beta	GTP-mannose-1-phosphate guanylyltransferase beta

GMPPB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GMPPB	Q9Y5P6	TXNDC5	Homo sapiens	Q86UY0	Y2H Array	25416956
Intra	GMPPB	Q9Y5P6	TXNDC5	Homo sapiens	Q86UY0	Validated Y2H	25416956
Intra	GMPPB	Q9Y5P6	DPPA4	Homo sapiens	Q7L190	Y2H Prey Pooling	32296183
Intra	GMPPB	Q9Y5P6	DPPA4	Homo sapiens	Q7L190	Y2H Array	32296183
Intra	GMPPB	Q9Y5P6	GMPPA	Homo sapiens	Q96IJ6	Y2H Prey Pooling	32296183
Intra	GMPPB	Q9Y5P6	GMPPA	Homo sapiens	Q96IJ6	Y2H Array	31515488
Intra	GMPPB	Q9Y5P6	GMPPA	Homo sapiens	Q96IJ6	Validated Y2H	25416956
Intra	GMPPB	Q9Y5P6	GMPPA	Homo sapiens	Q96IJ6	Y2H Pooling	16189514
Intra	GMPPB	Q9Y5P6	GMPPA	Homo sapiens	Q96IJ6	Anti Tag CoIP	33961781
Intra	GMPPB	Q9Y5P6	GMPPA	Homo sapiens	Q96IJ6	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Muscular Dystrophy-Dystroglycanopathy , Type C, 14	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t Lgmd2t MDDGC14 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 19 Lgmdr19 Muscular Dystrophy Limb-Girdle Type 2t Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Gmppb-Related Muscular Dystrophy, Limb-Girdle, Type 2t Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Gmppb-Related Muscular Dystrophy-Dystroglycanopathy Type C14 Gmppb-Related Limb-Girdle Muscular Dystrophy R19 Gmppb-Related Lgmd R19 Lgmd Type 2t Limb-Girdle Muscular Dystrophy Type 2t Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C14 Dystrophy, Muscular, Limb-Girdle, Type 2t
Muscular Dystrophy-Dystroglycanopathy , Type A, 14	MDDGA14 Muscular Dystrophy-Dystroglycanopathy , Type A14 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Gmppb-Related Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A14 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Gmppb-Related Dystrophy, Muscular, Dystroglycanopathy , Type A14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14	MDDGB14 Congenital Muscular Dystrophy Gmppb-Related Muscular Dystrophy-Dystroglycanopathy , Type B14 Muscular Dystrophy, Congenital, Gmppb-Related Muscular Dystrophy-Dystroglycanopathy Type B14 Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B14 Dystrophy, Muscular, Dystroglycanopathy , Type B14
Congenital Muscular Dystrophy-Dystroglycanopathy A14	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A14 Mddga14 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Gmppb-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A 14
Muscular Dystrophy-Dystroglycanopathy	Cmd Due To Dystroglycanopathy Congenital Muscular Dystrophy Due To Dystroglycanopathy Mddg Dystrophy, Muscular, Dystroglycanopathy
Congenital Muscular Dystrophy With Cerebellar Involvement	Cmd With Cerebellar Involvement Cmd-Crb
Congenital Muscular Dystrophy With Intellectual Disability	Cmd With Intellectual Disability Cmd-Mr
Congenital Myasthenic Syndromes With Glycosylation Defect
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Muscle Eye Brain Disease	Muscle-Eye-Brain Disease Muscle-Eye-Brain Syndrome Meb Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3 Meb Syndrome Santavuori Congenital Muscular Dystrophy
Isolated Elevated Serum Creatine Phosphokinase Levels	Elevated Serum Cpk Idiopathic Hyperckemia Isolated Hyperckemia Elevated Serum Creatine Phosphokinase H-Ck Idiopathic Persistent Elevation Of Serum Creatine Kinase
Creatine Phosphokinase, Elevated Serum	Hyperckemia, Idiopathic Cpk, Elevated Serum Hyperckmia HYPCK
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Lgmd2b Muscular Dystrophy, Limb-Girdle, Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycanopathy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y Muscular Dystrophy, Limb-Girdle, Type 3 Lgmd3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s LGMDR2 Muscular Dystrophy, Limb-Girdle, Type 2s Limb-Girdle Muscular Dystrophy Type 2b Lgmd2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2e Lgmd2s Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency Lgmd2y Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine Muscular Dystrophy, Limb-Girdle, Type 2y Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Dysferlin-Related Lgmd R2 Lgmd Due To Dysferlin Deficiency Lgmd Type 2b Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy 2b Limb-Girdle Muscular Dystrophy, Type 2b Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 Dystrophy, Muscular, Limb-Girdle, Type 2b Limb-Girdle Muscular Dystrophy, Type 2e
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q	Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Plectin Deficiency Lgmd2q Muscular Dystrophy, Limb-Girdle, Type 2q
Cerebellar Hypoplasia
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Alacrima, Achalasia, And Mental Retardation Syndrome	AAMR Alacrima, Achalasia, And Intellectual Disability Syndrome Alacrima, Achalasia, And Impaired Intellectual Development Syndrome Intellectual Disability
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Muscular Dystrophy-Dystroglycanopathy , Type C, 3	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o MDDGC3 Lgmd2o Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15 Lgmdr15 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related Muscular Dystrophy, Limb-Girdle, Type 2o Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related Muscular Dystrophy-Dystroglycanopathy Type C3 Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15 Lgmd Type 2o Limb-Girdle Muscular Dystrophy Type 2o Pomgnt1-Related Lgmd R15 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3 Dystrophy, Muscular, Limb-Girdle, Type 2o
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency Muscular Dystrophy, Congenital, Due To Itga7 Deficiency Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency Congenital Muscular Dystrophy With Itga7 Deficiency Congenital Myopathy Due To Integrin Alpha-7 Deficiency Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency Muscular Dystrophy Congenital Due To Integrin Alpha-7 Deficiency MDCI Dystrophy, Muscular, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular Dystrophy-Dystroglycanopathy , Type C, 2	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n Lgmd2n MDDGC2 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14 Lgmdr14 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related Limb-Girdle Muscular Dystrophy Type 2n Muscular Dystrophy, Limb-Girdle, Type 2n Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related Muscular Dystrophy-Dystroglycanopathy Type C 2 Pomt2-Related Limb-Girdle Muscular Dystrophy R14 Lgmd Type 2n Pomt2-Related Lgmd R14 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2 Mdgd2c Dystrophy, Muscular, Limb-Girdle, Type 2n
Neuromuscular Junction Disease	Neuromuscular Junction Diseases
Muscular Dystrophy-Dystroglycanopathy , Type B, 1	MDDGB1 Muscular Dystrophy-Dystroglycanopathy , Type B1 Muscular Dystrophy, Congenital, Pomt1-Related Muscular Dystrophy-Dystroglycanopathy Type B1 Cmd Due To Dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1 Muscular Dystrophy Congenital Pomt1-Related Muscular Dystrophy-Dystroglycanopathy Dystrophy, Muscular, Dystroglycanopathy , Type B1
Muscular Dystrophy, Congenital, 1b	MDC1B Congenital Muscular Dystrophy 1b Cmd1b Congenital Muscular Dystrophy Type 1b Familial Dilated Cardiomyopathy
Muscular Dystrophy-Dystroglycanopathy , Type C, 7	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u Lgmd2u MDDGC7 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 20 Lgmdr20 Muscular Dystrophy, Limb-Girdle, Type 2u Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Ispd Deficiency Muscular Dystrophy Limb-Girdle Type 2u Muscular Dystrophy-Dystroglycanopathy Type C7 Ispd-Related Limb-Girdle Muscular Dystrophy R20 Ispd-Related Lgmd R20 Lgmd Type 2u Limb-Girdle Muscular Dystrophy Type 2u Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C7 Dystrophy, Muscular, Dystroglycanopathy, Type C7
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Muscular Dystrophy-Dystroglycanopathy , Type C, 4	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m Lgmd2m MDDGC4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13 Lgmdr13 Muscular Dystrophy, Limb-Girdle, Type 2m Muscular Dystrophy-Dystroglycanopathy Type C 4 Fukutin-Related Limb-Girdle Muscular Dystrophy R13 Autosomal Recessive Lgmd Type 2m Fukutin-Related Lgmd R13 Lgmd Type 2m Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4 Limb-Girdle Muscular Dystrophy Type 2m Mdgd4c Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c Dystrophy, Muscular, Limb-Girdle, Type 2m
Congenital Muscular Dystrophy-Dystroglycanopathy Type A	Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies Mddga Klissencephaly Type 2 With Muscular And Ocular Involvement Lissencephaly Type 2 With Muscular And Ocular Involvement
Muscular Dystrophy-Dystroglycanopathy , Type C, 5	Lgmd2i Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i MDDGC5 Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency Limb-Girdle Muscular Dystrophy Type 2i Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9 Lgmdr9 Muscular Dystrophy, Limb-Girdle, Type 2i Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related Fkrp-Related Limb-Girdle Muscular Dystrophy R9 Fkrp-Related Lgmd R9 Lgmd Due To Fkrp Deficiency Lgmd Type 2i Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related Muscular Dystrophy Limb-Girdle Type 2i Muscular Dystrophy-Dystroglycanopathy Type C 5 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 Dystrophy, Muscular, Limb-Girdle, Type 2i
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x	Lgmd2x Muscular Dystrophy, Limb-Girdle, Type 2x
Muscular Dystrophy-Dystroglycanopathy , Type A, 4	Fukuyama Congenital Muscular Dystrophy Fcmd MDDGA4 Fukuyama Type Congenital Muscular Dystrophy Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related Cerebromuscular Dystrophy, Fukuyama Type Fukuyama Cmd Fukuyama Muscular Dystrophy Fukuyama Syndrome Muscular Dystrophy, Congenital Progressive, With Mental Retardation Muscular Dystrophy, Congenital, Fukuyama Type Muscular Dystrophy, Congenital, With Central Nervous System Involvement Polymicrogyria With Muscular Dystrophy Congenital Muscular Dystrophy, Fukuyama Type Fktn-Related Congenital Muscular Dystrophy Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4 Cerebromuscular Dystrophy Fukuyama Type Congenital Muscular Dystrophy Fukuyama Type Micropolygyria With Muscular Dystrophy Muscle-Eye-Brain Disease Fktn-Related Walker-Warburg Syndrome Fktn-Related
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Muscular Dystrophy, Congenital Merosin-Deficient, 1a	MDC1A Lama2-Related Muscular Dystrophy Atrophie Blanche Muscular Dystrophy, Congenital Merosin-Deficient Congenital Merosin-Deficient Muscular Dystrophy 1a Merosin-Negative Congenital Muscular Dystrophy Muscular Dystrophy White Matter Spongiosis Merosin Deficient Congenital Muscular Dystrophy Muscular Dystrophy Congenital, Merosin Negative Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient Cmd1a Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency Congenital Muscular Dystrophy Type 1a Laminin Alpha-2 Deficiency Merosin-Deficient Congenital Muscular Dystrophy Muscular Dystrophy, Congenital, Merosin-Deficient Lama2 Md Laminin Alpha 2 Deficiency Laminin Alpha-2 Deficient Muscular Dystrophy Merosin-Deficient Muscular Dystrophy Muscular Dystrophy Due To Lama2 Deficiency Merosin-Deficient Congenital Muscular Dystrophy 1a Cardiomyopathy, Familial Idiopathic
Granulomatous Amebic Encephalitis	Granulomatous Amoebic Encephalitis Acanthamoeba Encephalitis Acanthamoeba Granulomatous Encephalitis Granulomatous Amebic Encephalitis Due To Acanthamoeba
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Marinesco-Sjogren Syndrome	Marinesco-Sjögren Syndrome MSS Marinesco-Garland Syndrome Garland-Moorhouse Syndrome Hereditary Oligophrenic Cerebello-Lental Degeneration Oligophrenic Cerebellolenticular Degeneration Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism Marinesco-Sjogren Syndrome-Myopathy Marinesco-Sjogren-Garland Syndrome Marinesco-Sjoegren Syndrome
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Bethlem Myopathy 1	Bethlem Myopathy Myopathy, Benign Congenital, With Contractures Muscular Dystrophy, Benign Congenital BTHLM1 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 Lgmdd5 Benign Congenital Muscular Dystrophy Benign Autosomal Dominant Myopathy Myopathy, Bethlem Myopathy, Bethlem, Type 1
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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 (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS05525	GMPPB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GMPPB	RGD	RGD:1560458
Macaca mulatta	GMPPB	VGNC	VGNC:72984
Felis catus	GMPPB	VGNC	VGNC:62611
Mus musculus	GMPPB	MGD	MGI:2660880
Bos taurus	GMPPB	VGNC	VGNC:29441
Canis familiaris	GMPPB	VGNC	VGNC:41293
Others	GMPPB	NCBI