POMGNT1 - protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Gene

Also Known as MEB; RP76; GNTI.2; LGMD2O; GnT I.2; LGMDR15; MGAT1.2; gnT-I.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55624

About POMGNT1

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:46,188,683-46,220,305 (from NCBI)

This gene has 50 transcripts (splice variants), 202 orthologues, 1 paralogue and is associated with 12 phenotypes. Ubiquitous expression in heart (RPKM 23.4), thyroid (RPKM 21.0) and 25 other tissues.

Summary

This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]

POMGNT1 Products (5)

mRNA	Protein	Name
NM_001243766.2	NP_001230695.2	protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 2
NM_001290129.2	NP_001277058.2	protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 3
NM_001290130.2	NP_001277059.2	protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 4
NM_001410783.1	NP_001397712.1	protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 5
NM_017739.4	NP_060209.4	protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	27493216	GOA
enables acetylglucosaminyltransferase activity	IMP IMP: Inferred from mutant phenotype	26908613	GOA
enables beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	11742540	GOA
enables manganese ion binding	IDA IDA: Inferred from direct assay	27493216	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17034757	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in O-glycan processing	IDA IDA: Inferred from direct assay	27493216	GOA
acts upstream of or within protein O-linked glycosylation	IDA IDA: Inferred from direct assay	11709191	GOA
involved in protein O-linked glycosylation	IMP IMP: Inferred from mutant phenotype	26908613	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi membrane	IDA IDA: Inferred from direct assay	17034757	GOA
located in membrane	IMP IMP: Inferred from mutant phenotype	27493216	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

POMGNT1 Protein Structure

GNT-I

0
200
400
600
660 a.a.

Protein Preferred Names	Protein Names
protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1	UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2

POMGNT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	POMGNT1	Q8WZA1	CISD2	Homo sapiens	Q8N5K1	Y2H Prey Pooling	32296183
Intra	POMGNT1	Q8WZA1	CISD2	Homo sapiens	Q8N5K1	Y2H Array	32296183
Intra	POMGNT1	Q8WZA1	TMEM237	Homo sapiens	Q96Q45-2	Y2H Array	32296183
Intra	POMGNT1	Q8WZA1	TMEM237	Homo sapiens	Q96Q45-2	Y2H Prey Pooling	32296183
Intra	POMGNT1	Q8WZA1	TMEM237	Homo sapiens	Q96Q45-2	Validated Y2H	32296183
Intra	POMGNT1	Q8WZA1	POMK	Homo sapiens	Q9H5K3	Anti Tag CoIP	32707033
Intra	POMGNT1	Q8WZA1	CD74	Homo sapiens	P04233-2	Y2H Array	32296183
Intra	POMGNT1	Q8WZA1	CD74	Homo sapiens	P04233-2	Y2H Prey Pooling	32296183
Intra	POMGNT1	Q8WZA1	CXorf66	Homo sapiens	Q5JRM2	Y2H Array	32296183
Intra	POMGNT1	Q8WZA1	CXorf66	Homo sapiens	Q5JRM2	Y2H Prey Pooling	32296183
Intra	POMGNT1	Q8WZA1	RXYLT1	Homo sapiens	Q9Y2B1	Y2H Array	32296183
Intra	POMGNT1	Q8WZA1	RXYLT1	Homo sapiens	Q9Y2B1	Y2H Prey Pooling	32296183
Intra	POMGNT1	Q8WZA1	RXYLT1	Homo sapiens	Q9Y2B1	Validated Y2H	32296183
Intra	POMGNT1	Q8WZA1	LNX1	Homo sapiens	Q8TBB1	Y2H Array	29892012
Intra	POMGNT1	Q8WZA1	LNX1	Homo sapiens	Q8TBB1	Y2H Prey Pooling	25416956
Intra	POMGNT1	Q8WZA1	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	25416956
Intra	POMGNT1	Q8WZA1	LNX1	Homo sapiens	Q8TBB1	Y2H Array	25416956
Intra	POMGNT1	Q8WZA1	ERGIC3	Homo sapiens	Q9Y282	Y2H Prey Pooling	32296183
Intra	POMGNT1	Q8WZA1	ERGIC3	Homo sapiens	Q9Y282	Validated Y2H	32296183
Intra	POMGNT1	Q8WZA1	ERGIC3	Homo sapiens	Q9Y282	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant POMGNT1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71221	POMGNT1 Protein, Human (HEK293, His)	Q8WZA1-1 (L59-T660)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
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
Retinitis Pigmentosa 76	RP76 Retinitis Pigmentosa, Type 76
Muscular Dystrophy-Dystroglycanopathy , Type B, 3	MDDGB3 Muscular Dystrophy-Dystroglycanopathy , Type B3 Muscular Dystrophy, Congenital, Pomgnt1-Related Muscular Dystrophy-Dystroglycanopathy Type B3 Congenital Muscular Dystrophy Pomgnt1-Related Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B3 Muscular Dystrophy Congenital Pomgnt1-Related Dystrophy, Muscular, Dystroglycanopathy , Type B3
Muscular Dystrophy-Dystroglycanopathy , Type A, 3	MDDGA3 Muscular Dystrophy-Dystroglycanopathy , Type A3 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomgnt1-Related Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3 Muscle-Eye-Brain Disease Pomgnt1-Related Walker-Warburg Syndrome Pomgnt1-Related Dystrophy, Muscular, Dystroglycanopathy , Type A3
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
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A3 Mddga3 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomgnt1-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A3
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
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
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
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
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
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
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
Muscular Dystrophy-Dystroglycanopathy , Type B, 5	Mdc1c Muscular Dystrophy-Dystroglycanopathy Type B5 MDDGB5 Muscular Dystrophy, Congenital, 1c Muscular Dystrophy, Congenital, Fkrp-Related Congenital Muscular Dystrophy 1c Fkrp-Related Congenital Muscular Dystrophy Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5 Muscular Dystrophy Congenital Type 1c Muscular Dystrophy Fkrp-Related
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
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
Laryngomalacia	Congenital Laryngomalacia Congenital Laryngeal Stridor Laryngomalacia Congenital Floppy Epiglottis
Muscular Dystrophy-Dystroglycanopathy , Type B, 6	Muscular Dystrophy-Dystroglycanopathy Type B6 MDDGB6 Mdc1d Muscular Dystrophy, Congenital, Type 1d Congenital Muscular Dystrophy Type 1d Dystrophy, Muscular, Dystroglycanopathy , Type B6 Muscular Dystrophy, Congenital, Large-Related Congenital Muscular Dystrophy Large-Related Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6 Muscular Dystrophy Large-Related
Retinitis Pigmentosa 72	RP72 Retinitis Pigmentosa, Type 72
Ablepharon-Macrostomia Syndrome	Ablepharon Macrostomia Syndrome AMS Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies Eye Abnormalities
Cobblestone Lissencephaly	Lissencephaly Type 2 Lissencephaly, Cobblestone
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
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Retinitis Pigmentosa 68	RP68 Retinitis Pigmentosa, Type 68
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, 1	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k Lgmd2k MDDGC1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11 Lgmdr11 Muscular Dystrophy, Limb-Girdle, Type 2k Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome Limb-Girdle Muscular Dystrophy Type 2k Muscular Dystrophy Limb-Girdle Type 2k Muscular Dystrophy-Dystroglycanopathy Type C 1 Pomt1-Related Limb-Girdle Muscular Dystrophy R11 Lgmd Type 2k Pomt1-Related Lgmd R11 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1 Dystrophy, Muscular, Limb-Girdle, Type 2k Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1
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
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
Cardiomyopathy, Dilated, 1d	Dilated Cardiomyopathy 1d CMD1D Left Ventricular Noncompaction 6, Included Lvnc6, Included Left Ventricular Noncompaction 6 Cardiomyopathy, Dilated 1d
Retinitis Pigmentosa 69	RP69 Retinitis Pigmentosa, Type 69
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
Bilateral Frontal Polymicrogyria
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1 Mddga1 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related
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
Retinitis Pigmentosa 83	RP83 Retinitis Pigmentosa, Type 83
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l	Lgmd2l Muscular Dystrophy, Limb-Girdle, Type 2l
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
Myopathy, Distal, 4	Distal Myopathy With Posterior Leg And Anterior Hand Involvement MPD4 Williams Distal Myopathy Distal Muscular Dystrophy 4 Distal Abd-Filaminopathy Distal Myopathy 4 Myopathy, Distal, Type 4
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Peters-Plus Syndrome	Krause-Kivlin Syndrome Peters Plus Syndrome Peters Anomaly Irido-Corneo-Trabecular Dysgenesis PTRPLS Peters Anomaly With Short-Limb Dwarfism Peters Anomaly-Short Limb Dwarfism Syndrome Peters Anomaly With Short Limb Dwarfism Peters Congenital Glaucoma Krause-Van Schooneveld-Kivlin Syndrome Peters' Plus Syndrome Peters'-Plus Syndrome Anomaly Peters
Retinitis Pigmentosa 25	RP25 Retinitis Pigmentosa-25 Retinitis Pigmentosa, Type 25
Lissencephaly 2	Norman-Roberts Syndrome Lissencephaly Syndrome, Norman-Roberts Type LIS2 Lissencephaly With Cerebellar Hypoplasia Lch Lissencephaly Syndrome Norman-Roberts Type Norman Roberts Lissencephaly Syndrome Lissencephaly 3 Lis3 Microlissencephaly Type A Norman-Roberts Lissencephaly Syndrome Lissencephaly, Type 2 Cobblestone Lissencephaly
Band Heterotopia	Subcortical Band Heterotopia Double Cortex Syndrome Subcortical Laminar Heterotopia Double Cortex Band Heterotopia Of Brain BH Heco Heterotopic Cortex Familial Band Heterotopia Dc Dc Syndrome Heterotopia, Subcortical Band Sbh Sclh Bhy
Glaucoma 3, Primary Congenital, A	Buphthalmos Glaucoma, Congenital Congenital Glaucoma Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset GLC3A Glc3 Buphthalmia Primary Congenital Glaucoma Glaucoma, Primary Open Angle, Juvenile-Onset Simple Buphthalmos Buphthalmus Glaucoma, Primary Open Angle, Adult-Onset Primary Congenital Glaucoma 3a Primary Infantile Glaucoma Type 3a Glaucoma 3a, Primary Congenital Glaucoma, Congenital, Primary, Type 3a Hydrophthalmos Cystic Eyeball
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
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
Osteogenesis Imperfecta, Type Ii	Vrolik Type Of Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 OI2 Oi, Type Ii Osteogenesis Imperfecta Congenita Oic Osteogenesis Imperfecta Type Ii Lethal Osteogenesis Imperfecta Oi Type 2 Osteogenesis Imperfecta Congenita Perinatal Lethal Form Osteogenesis Imperfecta Congenita, Perinatal Lethal Form Perinatal Lethal Osteogenesis Imperfecta Congenita Perinatally Lethal Oi Osteogenesis Imperfecta 2 Oi-Ii Oi-Iia Oi Type Iia Osteogenesis Imperfecta Type Iia Osteogenesis Imperfecta Type Ii Autosomal Dominant Oi Type Ii Osteogenesis Imperfecta, Dominant Perinatal Lethal
Rigid Spine Muscular Dystrophy 1	Rigid Spine Syndrome RSMD1 Rss Mdrs1 Eichsfeld Type Congenital Muscular Dystrophy Desmin-Related Myopathy With Mallory Bodies Classic Multiminicore Myopathy Sepn1-Related Myopathy Multicore Myopathy, Severe Classic Form Minicore Myopathy, Severe Classic Form Multiminicore Disease, Severe Classic Form Muscular Dystrophy, Rigid Spine, 1 Classic Mmd Classic Multiminicore Disease Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity Desmin-Related Myopathy With Mallory Body-Like Inclusions Early-Onset Desmin-Related Myopathy Myopathy, Sepn1-Related Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity Muscular Dystrophy, Congenital, Eichsfeld Type Severe Classic Form Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Desmin-Related Myopathies With Mallory Bodies Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity Rigid Spine Muscular Dystrophy-1 Rigid Spine Congenital Muscular Dystrophy Congenital Muscular Dystrophy Eichsfeld Type Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Severe Classic Form Dystrophy, Muscular, Rigid Spine, Type 1
Muscle Tissue Disease
Physical Disorder	Physical Illness
Polymicrogyria	Pmg
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
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
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
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
Myopathy	Muscular Diseases Myopathies

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.	Product Name	Effect	Purity	Rare Diseases
HY-RS10866	POMGNT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19548	Pomgnt1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26044	Pomgnt1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	POMGNT1	VGNC	VGNC:80315
Canis familiaris	POMGNT1	VGNC	VGNC:54221
Bos taurus	POMGNT1	VGNC	VGNC:55660
Macaca mulatta	POMGNT1	VGNC	VGNC:100044
Rattus norvegicus	POMGNT1	RGD	RGD:1359396
Mus musculus	POMGNT1	MGD	MGI:1915523
Others	POMGNT1	NCBI