PMM2 - phosphomannomutase 2 Gene

Also Known as PMI; CDG1; CDGS; PMI1; CDG1a; PMM 2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5373

About PMM2

Cytogenetic location: 16p13.2 Genomic coordinates (GRCh38): 16:8,797,839-8,849,325 (from NCBI)

This gene has 28 transcripts (splice variants), 219 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in colon (RPKM 15.9), duodenum (RPKM 13.3) and 25 other tissues.

Summary

The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]

PMM2 Products (1)

mRNA Protein Name
NM_000303.3 NP_000294.1 phosphomannomutase 2
Molecular Function GO Annotation Evidence References Source
enables phosphomannomutase activity EXP
EXP: Inferred from Experiment
16540464 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
involved in GDP-mannose biosynthetic process from fructose-6-phosphate IMP
IMP: Inferred from mutant phenotype
9525984 GOA
involved in GDP-mannose biosynthetic process from mannose IMP
IMP: Inferred from mutant phenotype
9525984 GOA
involved in mannose catabolic process IMP
IMP: Inferred from mutant phenotype
9525984 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

PMM2 Protein Structure

PMM

PMM: Eukaryotic phosphomannomutase (28 - 245)

  • 0
  • 100
  • 200
  • 246 a.a.
Protein Preferred Names Protein Names

phosphomannomutase 2

  • mannose-6-phosphate isomerase

PMM2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PMM2 O15305 SGK2 Homo sapiens Q9HBY8-2 32296183
Intra
PMM2 O15305 SGK2 Homo sapiens Q9HBY8-2 32296183
Intra
PMM2 O15305 SGK2 Homo sapiens Q9HBY8-2 32296183
Intra
PMM2 O15305 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
PMM2 O15305 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
PMM2 O15305 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
PMM2 O15305 ACY3 Homo sapiens Q96HD9 26871637
Intra
PMM2 O15305 ACY3 Homo sapiens Q96HD9 32296183
Intra
PMM2 O15305 ACY3 Homo sapiens Q96HD9 26871637
Intra
PMM2 O15305 ACY3 Homo sapiens Q96HD9 32296183
Intra
PMM2 O15305 ACY3 Homo sapiens Q96HD9 26871637
Intra
PMM2 O15305 ACY3 Homo sapiens Q96HD9 32296183
Intra
PMM2 O15305 ACY3 Homo sapiens Q96HD9 25416956
Intra
PMM2 O15305 ACY3 Homo sapiens Q96HD9 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PMM2 Proteins

Cat. No. 상품명 Accession Purity
HY-P71021 PMM2 Protein, Human (His) O15305-1 (M1-S246) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Congenital Disorder Of Glycosylation, Type Ia
  • CDG1A

  • Cdg Ia

  • Phosphomannomutase 2 Deficiency

  • Jaeken Syndrome

  • Pmm2-Congenital Disorder Of Glycosylation

  • Congenital Disorder Of Glycosylation Type Ia

  • Cdgia

  • Congenital Disorder Of Glycosylation Ia

  • Congenital Disorder Of Glycosylation 1a

  • Carbohydrate-Deficient Glycoprotein Syndrome Type Ia

  • Cdgs1a

  • Pmm2-Cdg

  • Cdg-Ia

  • Congenital Disorder Of Glycosylation Type 1a

  • Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly

  • Pmm Deficiency

  • Cdg Syndrome Type Ia

  • Carbohydrate Deficient Glycoprotein Syndrome Type Ia

  • Cdg Syndrome Type 1a

  • Jaeken'S Syndrome

  • Pmm2 Deficiency

  • Glycosylation, Congenital Disorder Of, Type Ia

Cerebral Atrophy
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
  • CHEGDD

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

Developmental And Epileptic Encephalopathy 36
  • Congenital Disorder Of Glycosylation Type I

  • Epileptic Encephalopathy, Early Infantile, 36

  • Congenital Disorder Of Glycosylation, Type Is

  • Cdg1s

  • Congenital Disorder Of Glycosylation, Type Ie

  • CDG1E

  • Congenital Disorder Of Glycosylation Type 1e

  • DEE36

  • Eiee36

  • Cdg Is

  • Cdgis

  • Congenital Disorder Of Glycosylation Ie

  • Congenital Disorder Of Glycosylation 1e

  • Cdg-Is

  • Congenital Disorder Of Glycosylation Type Is

  • Developmental And Epileptic Encephalopathy, 36

  • Cdg Ie

  • Cdgie

  • Early Infantile Epileptic Encephalopathy 36

  • Alg13-Cdg

  • Cdg Syndrome Type Is

  • Congenital Disorder Of Glycosylation Type 1s

  • Dpm1-Cdg

  • Cdg Syndrome Type Ie

  • Cdg-Ie

  • Carbohydrate Deficient Glycoprotein Syndrome Type Ie

  • Congenital Disorder Of Glycosylation Type Ie

  • Dol-P-Mannosyltransferase Deficiency

  • Congenital Disorder Of Glycosylation 1s

  • Glycosylation, Congenital Disorder Of, Type I

  • Glycosylation, Congenital Disorder Of, Type Ie

  • Congenital Disorder Of Glycosylation Type 1a

  • Congenital Disorder Of Glycosylation, Type Iu

Spasticity
Aceruloplasminemia
  • Cerebellar Ataxia

  • Hypoceruloplasminemia

  • Hemosiderosis, Systemic, Due To Aceruloplasminemia

  • Familial Apoceruloplasmin Deficiency

  • Hereditary Ceruloplasmin Deficiency

  • Deficiency Of Ferroxidase

  • Hypoceruloplasminemia, Hereditary

  • Ceruloplasmin Deficiency

  • Systemic Hemosiderosis Due To Aceruloplasminemia

  • ACERULOP

Premature Menopause
  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos

Cerebral Palsy
  • Infantile Cerebral Palsy

  • Mixed Cerebral Palsy

  • Palsy Cerebral

  • Palsy, Cerebral

  • Cerebral Palsy, Mixed

Cerebellar Hypoplasia
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

Congenital Disorder Of Glycosylation, Type Ic
  • CDG1C

  • Congenital Disorder Of Glycosylation Type 1c

  • Cdgic

  • Congenital Disorder Of Glycosylation Ic

  • Congenital Disorder Of Glycosylation 1c

  • Carbohydrate-Deficient Glycoprotein Syndrome Type V

  • Cdg Syndrome Type Ic

  • Congenital Disorder Of Glycosylation Type Ic

  • Glucosyltransferase 1 Deficiency

  • Cdg Ic

  • Carbohydrate-Deficient Glycoprotein Syndrome, Type I, With Deficient Glycosylation Of Dolichol-Linked Oligosaccharide, Formerly

  • Carbohydrate-Deficient Glycoprotein Syndrome, Type V, Formerly

  • Cdgs5, Formerly

  • Alg6-Congenital Disorder Of Glycosylation

  • Carbohydrate-Deficient Glycoprotein Syndrome Type Ic

  • Alg6-Cdg

  • Cdg-Ic

  • Carbohydrate Deficient Glycoprotein Syndrome Type Ic

  • Cdgs5

  • Glycosylation, Congenital Disorder Of, Type Ic

Dissociated Nystagmus
Immunodeficiency 47
  • Congenital Disorder Of Glycosylation Type Ii

  • CDG2E

  • Congenital Disorder Of Glycosylation Type Iie

  • IMD47

  • Cdg2s

  • Cdg Iis

  • Cdgiis

  • Immunodeficiency And Hepatopathy With Or Without Neurologic Features

  • Congenital Disorder Of Glycosylation, Type Ii

  • CDG1I

  • Congenital Disorder Of Glycosylation, Type Iie

  • Cdg Iie

  • Congenital Disorder Of Glycosylation Type 2e

  • Congenital Disorder Of Glycosylation, Type Iis

  • Cdg Ii

  • Cdgii

  • Cdgiie

  • Carbohydrate Deficient Glycoprotein Syndrome Type Iie

  • Cdg Syndrome Type Iie

  • Congenital Disorder Of Glycosylation Ii

  • Congenital Disorder Of Glycosylation 1i

  • Cdg-Iie

  • Alg2-Cdg

  • Cdg-Ii

  • Glycosylation, Congenital Disorder Of, Type Ii

  • Cdgiide

  • Congenital Disorder Of Glycosylation Type Iis

  • Cog7-Cdg

  • Cdg Syndrome Type Ii

  • Carbohydrate Deficient Glycoprotein Syndrome Type Ii

  • Congenital Disorder Of Glycosylation Type 1i

  • Mannosyltransferase 2 Deficiency

  • Congenital Disorder Of Glycosylation 2e

  • Congenital Disorder Of Glycosylation 2s

  • Congenital Disorders Of Glycosylation Type Ii

  • Glycosylation, Congenital Disorder Of, Type Iie

  • Immunodeficiency, Type 47

  • Congenital Disorder Of Glycosylation Type 2a

Munchausen By Proxy
  • Munchausen Syndrome By Proxy

  • Munchausen By Proxy Syndrome

  • Münchausen Syndrome By Proxy

Granulomatous Disease, Chronic, Autosomal Recessive, 2
  • Chronic Granulomatous Disease Due To Deficiency Of Ncf-2

  • CGD2

  • Ncf2 Deficiency

  • P67-Phox Deficiency

  • Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii

  • Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2

  • Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii

  • Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii

  • Granulomatous Disease, Chronic, Due To Ncf2 Deficiency

  • Neutrophil Cytosol Factor 2 Deficiency

  • Chronic Granulomatous Disease 2, Autosomal Recessive

  • Autosomal Recessive Chronic Granulomatous Disease 2

  • Cdg2

  • Deficiency Of Ncf2

  • Deficiency Of P67-Phox

  • Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii

  • Deficiency Of Neutrophil Cytosol Factor 2

  • Avellino Corneal Dystrophy

Diabetes Mellitus
  • Diabetes

Galactosemia I
  • Galactosemia

  • Galt Deficiency

  • Classic Galactosemia

  • Galactose-1-Phosphate Uridylyltransferase Deficiency

  • Galactose-1-Phosphate Uridyltransferase Deficiency

  • GALAC1

  • Galactosemia, Classic

  • Galactosemia Type 1

  • Galactosemias

  • Classical Galactosemia

  • Galactosaemia

  • Galactose Intolerance

  • Epimerase Deficiency Galactosemia

  • Galactokinase Deficiency Disease

  • Galactose Epimerase Deficiency

  • Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

  • Gale Deficiency

  • Galk Deficiency

  • Udp-Galactose-4-Epimerase Deficiency Disease

  • Utp Hexose-1-Phosphate Uridylyltransferase Deficiency

  • Galactosemia 1

  • Galactosemia, Duarte Variant

  • Deficiency Of Galactokinase

  • Udpglucose 4-Epimerase Deficiency Disease

  • Classical Galactosaemia

  • Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency

  • Classic Galactosaemia

  • Deficiency Of Hexose-1-Phosphate Uridylyltransferase

  • Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase

  • Deficiency Of Galactose-1-Phosphate Uridylyltransferase

  • Galactose-1-Phosphate Uridyl Transferase Deficiency

  • Transferase Deficiency Galactosemia

  • Deficiency Of Uridyl Transferase

  • Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase

  • Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

Congenital Disorder Of Glycosylation, Type Iid
  • CDG2D

  • Congenital Disorder Of Glycosylation Type Iid

  • Cdg Iid

  • Cdgiid

  • B4galt1-Cdg

  • Cdg-Iid

  • Congenital Disorder Of Glycosylation Type 2d

  • Beta-1,4-Galactosyltransferase Deficiency

  • Cdg Syndrome Type Iid

  • Carbohydrate Deficient Glycoprotein Syndrome Type Iid

  • Congenital Disorder Of Glycosylation 2d

  • Glycosylation, Congenital Disorder Of, Type Iid

  • Congenital Disorder Of Glycosylation, Type Iiid

Ngly1-Deficiency
  • Deficiency Of N-Glycanase 1

  • Ngly1-Cddg

  • Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome

  • Ngly1 Deficiency

  • Congenital Disorder Of Deglycosylation

  • Congenital Disorder Of Glycosylation Type Iv

  • Congenital Disorder Of Deglycosylation

  • Cddg

  • Congenital Disorder Of Glycosylation Type Iv

  • Cdg1v

Congenital Disorder Of Glycosylation, Type Iin
  • CDG2N

  • Slc39a8-Cdg

  • Cdg Iin

  • Congenital Disorder Of Glycosylation Type Iin

  • Cdgiin

  • Carbohydrate Deficient Glycoprotein Syndrome Type Iin

  • Cdg Syndrome Type Iin

  • Congenital Disorder Of Glycosylation Type 2n

  • Cdg-Iin

  • Cdgiidn

  • Slc39a8 Deficiency

  • Congenital Disorder Of Glycosylation 2n

  • Glycosylation, Congenital Disorder Of, Type Iin

Congenital Disorder Of Glycosylation, Type Iia
  • CDG2A

  • Congenital Disorder Of Glycosylation Type Iia

  • Cdg Iia

  • Cdgiia

  • Congenital Disorder Of Glycosylation Type 2a

  • Alkuraya Syndrome

  • Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth

  • Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii

  • Mgat2-Cdg

  • Cdg-Iia

  • Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly

  • Cdgs2, Formerly

  • Cdgs2

  • Cdg Syndrome Type Iia

  • Carbohydrate Deficient Glycoprotein Syndrome Type Iia

  • N-Acetylglucosaminyltransferase 2 Deficiency

  • Congenital Disorder Of Glycosylation 2a

  • Carbohydrate-Deficient Glycoprotein Syndrome Type Ii

  • Cdgs Type Ii

  • Carbohydrate-Deficient Glycoprotein Syndrome Type 2

  • Glycosylation, Congenital Disorder Of, Type Iia

Fructose-1,6-Bisphosphatase Deficiency
  • Fructose-1,6-Diphosphatase Deficiency

  • Baker-Winegrad Disease

  • FBP1D

  • Fbpase Deficiency

  • Fructose 1,6 Diphosphatase Deficiency

  • Fructose 1 Phosphate Aldolase Deficiency

  • Fbp1 Deficiency

  • Hereditary Fructose Intolerance Syndrome

Protein-Losing Enteropathy
  • Protein-Losing Enteropathies

  • Enteropathy, Exudative

  • Exudative Enteropathy

  • Ple - [Protein-Losing Enteropathy]

Esotropia
  • Convergence In Manifest Squint

  • Crossed Eyes

  • Internal Strabismus

  • Convergent Concomitant Strabismus

  • Convergent Squint

  • Convergent Strabismus

  • Cross-Eye

Epidermolysis Bullosa, Junctional 1b, Severe
  • Epidermolysis Bullosa, Junctional, Herlitz Type

  • Epidermolysis Bullosa Letalis

  • JEB1B

  • Epidermolysis Bullosa Junctionalis, Herlitz Type

  • Jeb-Herlitz Type

  • Herlitz-Pearson-Type Epidermolysis Bullosa

  • Junctional Epidermolysis Bullosa Herlitz Type

  • Jeb-H

  • Junctional Epidermolysis Bullosa Generalisata Gravis

  • Junctional Epidermolysis Bullosa, Herlitz-Pearson Type

  • Epidermolysis Bullosa, Junctional, Generalized Severe

  • Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type

  • Herlitz Type Epidermolysis Bullosa Junctionalis

  • Severe Generalized Junctional Epidermolysis Bullosa

  • Junctional Epidermolysis Bullosa, Herlitz Type

  • Severe Generalized Jeb

  • Epidermolysis Letalis

  • Junctional Epidermolysis Bullosa Gravis

  • Junctional Epidermolysis Bullosa Herlitz-Pearson Type

  • Herlitz Disease

Hyperinsulinemic Hypoglycemia, Familial, 6
  • Hyperinsulinism-Hyperammonemia Syndrome

  • HHF6

  • Familial Hyperinsulinemic Hypoglycemia 6

  • Hi/Ha Syndrome

  • Ha/Hi Syndrome

  • Hyperinsulinemic Hypoglycemia Familial 6

  • Hyperinsulinism Hyperammonemia Syndrome

  • Hhs

Hyperphenylalaninemia, Bh4-Deficient, A
  • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

  • Pts Deficiency

  • HPABH4A

  • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency

  • Ptsd

  • Bh4-Deficient Hyperphenylalaninemia A

  • Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency

  • Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency

  • Hyperphenylalanemia, Bh4-Deficient, A

  • Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

  • 6-Pyruvoyltetrahydropterin Synthase Deficiency

  • Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency

  • Ptpsd

  • Hyperphenylalaninemia, Bh4-Deficient, Type A

Congenital Disorder Of Glycosylation, Type Iik
  • CDG2K

  • Congenital Disorder Of Glycosylation Type Iik

  • Cdg Iik

  • Cdgiik

  • Carbohydrate Deficient Glycoprotein Syndrome Type Iik

  • Cdg Syndrome Type Iik

  • Congenital Disorder Of Glycosylation Type 2k

  • Tmem165-Cdg

  • Cdg-Iik

  • Cdgiidk

  • Congenital Disorder Of Glycosylation 2k

  • Glycosylation, Congenital Disorder Of, Type Iik

Congenital Disorder Of Glycosylation, Type Iii
  • CDG2I

  • Congenital Disorder Of Glycosylation Type Iii

  • Cdgiii

  • Carbohydrate Deficient Glycoprotein Syndrome Type Iii

  • Congenital Disorder Of Glycosylation Type 2i

  • Cog5-Cdg

  • Cdgiidi

  • Congenital Disorder Of Glycosylation 2i

  • Glycosylation, Congenital Disorder Of, Type Iii

  • Congenital Disorder Of Glycosylation, Type I-Iix

Hyperinsulinemic Hypoglycemia
  • Nesidioblastosis

  • Islet Cell Hyperplasia

  • Persistent Hyperinsulinemia Hypoglycemia Of Infancy

  • Hyperinsulinemic Hypoglycaemia

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

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

Thrombocytopenia
  • Low Platelet Count

  • Low Platelets

  • Decreased Platelets

  • Platelet Dysfunction Nos

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
  • Autosomal Recessive Polycystic Kidney Disease

  • Arpkd

  • Polycystic Kidney Disease, Autosomal Recessive

  • Polycystic Kidney And Hepatic Disease 1

  • Pkhd1

  • PKD4

  • Polycystic Kidney Disease 4 With Or Without Hepatic Disease

  • Polycystic Kidney Disease, Infantile, Type I

  • Polycystic Kidney Disease, Infantile Type

  • Polycystic Kidney, Autosomal Recessive

  • Pkd3, Formerly

  • Polycystic Kidney Disease 4, With Or Without Hepatic Disease

  • Arpkd/Chf

  • Ar-Pkd

  • Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

  • Infantile Polycystic Kidney Disease Type I

  • Pkd3

  • Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

  • Polycystic Kidney Disease 3, Autosomal Dominant

Strabismus
  • Strabismus, Susceptibility To

  • Strabismus, Susceptibility To, 1

  • Strabismus 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

Orthologs Information

Species Symbol Source ID
Canis familiaris PMM2 VGNC VGNC:44734
Mus musculus PMM2 MGD MGI:1859214
Felis catus PMM2 VGNC VGNC:68922
Macaca mulatta PMM2 VGNC VGNC:76193
Rattus norvegicus PMM2 RGD RGD:1309366
Bos taurus PMM2 VGNC VGNC:33073
Others PMM2 NCBI