M6PR - mannose-6-phosphate receptor, cation dependent Gene

Also Known as SMPR; MPR46; CD-MPR; MPR 46; MPR-46; CD-M6PR

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4074

About M6PR

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:8,940,361-8,949,645 (from NCBI)

This gene has 13 transcripts (splice variants) and 201 orthologues. Ubiquitous expression in appendix (RPKM 59.8), lymph node (RPKM 57.5) and 25 other tissues.

Summary

This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to lysosomes. The encoded protein functions as a homodimer and requires divalent cations for ligand binding. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, May 2011]

M6PR Products (14)

mRNA Protein Name
NM_001207024.2 NP_001193953.1 cation-dependent mannose-6-phosphate receptor isoform 2 precursor
NM_001414320.1 NP_001401249.1 cation-dependent mannose-6-phosphate receptor isoform 1 precursor
NM_001414322.1 NP_001401251.1 cation-dependent mannose-6-phosphate receptor isoform 4
NM_001414323.1 NP_001401252.1 cation-dependent mannose-6-phosphate receptor isoform 4
NM_001414324.1 NP_001401253.1 cation-dependent mannose-6-phosphate receptor isoform 4
NM_001414325.1 NP_001401254.1 cation-dependent mannose-6-phosphate receptor isoform 4
NM_001414327.1 NP_001401256.1 cation-dependent mannose-6-phosphate receptor isoform 6
NM_001414328.1 NP_001401257.1 cation-dependent mannose-6-phosphate receptor isoform 6
NM_001414329.1 NP_001401258.1 cation-dependent mannose-6-phosphate receptor isoform 7
NM_001414330.1 NP_001401259.1 cation-dependent mannose-6-phosphate receptor isoform 7
NM_001414331.1 NP_001401260.1 cation-dependent mannose-6-phosphate receptor isoform 1 precursor
NM_001414332.1 NP_001401261.1 cation-dependent mannose-6-phosphate receptor isoform 1 precursor
NM_001414333.1 NP_001401262.1 cation-dependent mannose-6-phosphate receptor isoform 1 precursor
NM_002355.4 NP_002346.1 cation-dependent mannose-6-phosphate receptor isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
11387475 GOA
enables retromer complex binding IMP
IMP: Inferred from mutant phenotype
27385586 GOA
Cellular Component GO Annotation Evidence References Source
located in endosome IDA
IDA: Inferred from direct assay
15078902 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
16154903 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

M6PR Protein Structure

Man-6-P_recep

Man-6-P_recep: Mannose-6-phosphate receptor (1 - 277)

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

cation-dependent mannose-6-phosphate receptor

  • 46-kDa mannose 6-phosphate receptor

M6PR Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
M6PR P20645 COMT Homo sapiens P21964-2 32814053
Intra
M6PR P20645 COMT Homo sapiens P21964-2 32814053
Intra
M6PR P20645 COMT Homo sapiens P21964-2 32814053
Intra
M6PR P20645 NINJ2 Homo sapiens Q9NZG7 32296183
Intra
M6PR P20645 KTN1 Homo sapiens Q86UP2-3 32296183
Intra
M6PR P20645 GIMAP5 Homo sapiens Q96F15 32296183
Intra
M6PR P20645 DUSP12 Homo sapiens Q9UNI6 32296183
Intra
M6PR P20645 SMCO4 Homo sapiens Q9NRQ5 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

M6PR Antibodies

Cat. No. Product Name Application Reactivity
HY-P82991 M6PR Antibody (YA2736) WB, ICC/IF, FC Human, Mouse, Rat
HY-P84173 M6PR Antibody (YA3870) WB, IHC-P, FC, ELISA Human, Mouse
HY-P84173A M6PR Antibody (YA3870)(PBS only) WB, IHC-P, FC, ELISA Human, Mouse

Related Diseases

Diseases Alias
Mucolipidosis Ii Alpha/Beta
  • I-Cell Disease

  • Mucolipidosis Type Ii

  • Mucolipidosis Ii

  • Icd

  • Inclusion Cell Disease

  • Inclusion-Cell Disease

  • I Cell Disease

  • Mucolipidosis 2

  • MLII

  • Ml Ii

  • Ml Ii Alpha/Beta

  • Gnpta

  • Leroy Disease

  • Ml 2

  • Ml Disorder Type 2

  • N-Acetylglucosamine 1phosphotransferase Deficiency

  • Mucolipidosis Type Ii Alpha/Beta

  • N-Acetylglucosamine 1-Phosphotransferase Deficiency

  • Deficiency Of N-Acetylglucosamine-1-Phosphotransferase

  • Mucolipidosis, Type Ii, Alpha/Beta

  • Ml2

  • Type Ii Mucolipidosis

Niemann-Pick Disease
  • Sphingomyelin/Cholesterol Lipidosis

  • Niemann-Pick Diseases

  • Lipoid Histiocytosis

  • Sphingomyelin Lipidosis

  • Sphingomyelinase Deficiency Disease

  • Lipid Histiocytosis

  • Neuronal Cholesterol Lipidosis

  • Neuronal Lipidosis

  • Npd

  • Sphingomyelinase Deficiency

  • Niemann-Pick Disease, Type A

Mucopolysaccharidosis, Type Vii
  • Sly Syndrome

  • Beta-Glucuronidase Deficiency

  • Mucopolysaccharidosis Vii

  • Mucopolysaccharidosis Type Vii

  • MPS7

  • Mps Vii

  • Gusb Deficiency

  • Mucopolysaccharidosis Type 7

  • Mucopolysaccharidosis 7

  • Deficiency Of Beta-Glucuronidase

  • Mps Vii - Sly Syndrome

  • Mps 7

  • Mpsvii

  • Sly Disease

  • Sl

Aspartylglucosaminuria
  • Aspartylglycosaminuria

  • Glycosylasparaginase Deficiency

  • Aspartylglucosaminidase Deficiency

  • Aga Deficiency

  • AGU

  • Aspartylglucosamidase Deficiency

  • Glycoasparaginase

  • Aspartylglucosamidase Deficiency

  • Hyperammonemia, Type Iii

Glycogen Storage Disease Ii
  • Pompe Disease

  • Glycogen Storage Disease Type Ii

  • Acid Maltase Deficiency

  • Gsd Ii

  • Gaa Deficiency

  • Alpha-1,4-Glucosidase Deficiency

  • Glycogenosis Type Ii

  • GSD2

  • Acid Alpha-Glucosidase Deficiency

  • Amd

  • Glycogen Storage Disease, Type Ii

  • Pompe'S Disease

  • Glycogen Storage Disease Type 2

  • Cardiomegalia Glycogenica Diffusa

  • Acid Maltase Deficiency Disease

  • Deficiency Of Alpha-Glucosidase

  • Glycogenosis, Generalized, Cardiac Form

  • Deficiency Of Glucoamylase

  • Deficiency Of Maltase

  • Generalized Glycogenosis

  • Glycogenosis, Type 2

  • Lysosomal Alpha-1,4-Glucosidase Deficiency

  • Glucosidase Acid-1,4-Alpha Deficiency

  • Aglucosidase Alfa

  • Deficiency Of Lysosomal Alpha-Glucosidase

  • Glycogen Storage Disease Due To Acid Maltase Deficiency

  • Alpha-1,4-Glucosidase Acid Deficiency

  • Gsd Due To Acid Maltase Deficiency

  • Gsd Type 2

  • Gsd Type Ii

  • Glycogenosis Due To Acid Maltase Deficiency

  • Glycogenosis Type 2

  • Glycogen Storage Disease 2

  • Cardiomegalia Glycogenica

  • Glycogenosis Generalized Cardiac Form

  • Glycogenosis Ii

  • Gsd-Ii

  • Storage Disease, Glycogen, Type Ii

  • Generalized Glycogen Storage Disease Of Infants

  • Cardiac Form Of Generalized Glycogenosis

Mucopolysaccharidosis, Type Vi
  • Maroteaux-Lamy Syndrome

  • Arylsulfatase B Deficiency

  • Mucopolysaccharidosis Type Vi

  • Mps Vi

  • Mucopolysaccharidosis Vi

  • Mucopolysaccharidosis Type 6

  • MPS6

  • Arsb Deficiency

  • N-Acetylgalactosamine-4-Sulfatase Deficiency

  • Mucopolysaccharidosis 6

  • N-Acetylgalactosamine 4-Sulfatase Deficiency

  • Deficiency Of N-Acetylgalactosamine-4-Sulfatase

  • Maroteaux - Lamy Syndrome

  • Mps Vi - Maroteaux-Lamy Syndrome

  • Mps 6

  • Maroteaux Lamy Syndrome

  • Mucopoly-Saccharidosis Type Vi

  • Polydystrophic Dwarfism

  • Asb Deficiency

  • Mpsvi

  • Maroteaux-Lamy Disease

  • Arsb - [Arylsulfatase B] Deficiency

Mucopolysaccharidosis, Type Iiia
  • Mucopolysaccharidosis Type Iiia

  • MPS3A

  • Mps Iiia

  • Sanfilippo Syndrome A

  • Heparan Sulfate Sulfatase Deficiency

  • Sulfamidase Deficiency

  • Heparan Sulfamidase Deficiency

  • Mpsiiia

  • Mucopolysaccharidosis Type 3a

  • Sanfilippo Syndrome Type A

  • Mucopolysaccharidosis Iii-A

  • Heparane Sulfamidase Deficiency

  • Mps 3a

  • Mucopoly-Saccharidosis Type 3a

  • Mps Iii-A

  • Mucopolysaccharidosis 3a

  • Mucopolysaccharidosis Iii

Fabry Disease
  • Alpha-Galactosidase A Deficiency

  • Anderson-Fabry Disease

  • Angiokeratoma Corporis Diffusum

  • Ceramide Trihexosidase Deficiency

  • Fabry Disease, Cardiac Variant

  • Fabry'S Disease

  • Hereditary Dystopic Lipidosis

  • Gla Deficiency

  • FD

  • Alpha Galactosidase Deficiency

  • Deficiency Of Melibiase

  • Angiokeratoma, Diffuse

  • Angiokeratoma Diffuse

  • Diffuse Angiokeratoma

Lysosomal Storage Disease
  • Lysosomal Storage Diseases

  • Disorder Of Lysosomal Enzyme

  • Inborn Lysosomal Enzyme Disorder

  • Lysosomal Storage Metabolism Disorder

  • Lysosomal Storage Disorder

Scheie Syndrome
  • Mucopolysaccharidosis Type Is

  • Alpha-L-Iduronidase Deficiency

  • Mucopolysaccharidosis Type I

  • Mucopolysaccharidosis I

  • Hurler-Scheie Syndrome

  • Mucopolysaccharidosis Type 1

  • Mucopolysaccharidosis Is

  • Mucopolysaccharidosis Type 1s

  • Mucopolysaccharidosis Type V

  • Hurler Syndrome

  • Idua Deficiency

  • Mps I

  • MPS1S

  • Mps1-S

  • Mucopolysaccharidosis Type V, Formerly

  • Mps V, Formerly

  • Mps5, Formerly

  • Lipochondrodystrophy

  • Mpsis

  • Mucopolysaccharidosis, Type I

  • Iduronidase Deficiency Disease

  • Mps I - Hurler Syndrome

  • Mucopolysaccharidosis, Mps-I

  • Mucopolysaccharidosis, Type 1

  • Attenuated Mps I

  • Mps 1

  • Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)

  • Severe Mps I

  • Mps I H

  • Mps I H-S

  • Mps I S

  • Mps1

  • Mpsi

  • Mucopolysaccharidosis 1s

  • Mps Is

  • Mps-Is

  • Mps V

  • Mucopolysaccharidosis V

  • Pfaundler-Hurler Syndrome

  • L-Iduronidase Deficiency

  • Dysostosis Multiplex

  • Dysostosis Multiplex Syndrome

  • Gargoylism

  • Mps1 - [Mucopolysaccharidosis Type 1]

Cerebral Lipidosis
Mucolipidosis
Mucolipidosis Iii Alpha/Beta
  • Pseudo-Hurler Polydystrophy

  • Mucolipidosis Iii

  • Ml Iii Alpha/Beta

  • Mucolipidosis Iiia

  • Ml Iiia

  • Ml Iii

  • Ml 3 A

  • Ml3

  • Mucolipidosis Type 3a

  • Mucolipidosis Iii, Variant

  • Mucolipidosis Type Iii Alpha/Beta

  • Ml 3 Alpha/Beta

  • Mucolipidosis Type 3 Alpha/Beta

  • Mucolipidosis Type 3

  • Mucolipidosis Type Iii Complementation Group A

  • MLIIIA

  • Cariant Pseudo-Hurler Polydystrophy

  • Mucolipidosis, Type Iii Alpha/Beta

  • Mucolipidosis, Type Iii, Alpha/Beta

Hyperinsulinemic Hypoglycemia, Familial, 5
  • Hyperinsulinism Due To Insr Deficiency

  • HHF5

  • Familial Hyperinsulinemic Hypoglycemia 5

  • Hyperinsulinemic Hypoglycemia Due To Insr Deficiency

  • Hyperinsulinemic Hypoglycemia Due To Insulin Receptor Deficiency

  • Congenital Hyperinsulinism

  • Persistent Hyperinsulinemic Hypoglycemia Of Infancy

  • Phhi

  • Hyperinsulinemic Hypoglycemia Familial 5

Mucopolysaccharidosis Iii
  • Sanfilippo Syndrome

  • Mucopolysaccharidosis Type Iii

  • Mucopolysaccharidosis Type 3

  • Mps Iii

  • Mpsiii

  • Sanfilippo Disease

  • Heparan Sulfate Sulfatase Deficiency

  • Mucopolysaccharidosis, Mps-Iii

  • N-Sulphoglucosamine Sulphohydrolase Deficiency

  • Naglu Deficiency

  • Sanfilippo'S Syndrome

  • Mucopoly-Saccharidosis Type 3

  • Mps3

  • Sanfilippos Syndrome

  • Mucopolysaccharidosis Type Iiia

  • Mps Iii B

Mucopolysaccharidosis-Plus Syndrome
  • Mucopolysaccharidosis

  • Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders

  • MPSPS

  • Mucopolysaccharidoses

  • Mps

  • Mucopolysaccharidosis-Like Plus Disease

  • Disorders Of Glycosaminoglycan Metabolism

Neuronal Ceroid Lipofuscinosis
  • Hereditary Ceroid Lipofuscinosis

  • Batten Disease

  • Ncl

  • Neuronal Ceroid-Lipofuscinoses

  • Lipofuscinosis, Ceroid, Neuronal

  • Juvenile Neuronal Ceroid Lipofuscinosis

  • Cerebromacular Dystrophy

  • Cerebromacular Degeneration

  • Ceroid-Lipofuscinosis

  • Ncl - [Neuronal Ceroid Lipofuscinosis]

  • Amaurotic Familial Idiocy

  • Amaurotic Idiocy

  • Amaurotic Idiot

  • Neuronal Lipofuscinosis

  • Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Mucopolysaccharidosis, Type Iva
  • Mps Iva

  • Galns Deficiency

  • MPS4A

  • Morquio A Disease

  • Galactosamine-6-Sulfatase Deficiency

  • Morquio Syndrome A

  • Mucopolysaccharidosis Iva

  • Mucopolysaccharidosis Type Iva

  • Mpsiva

  • Morquio Disease Type A

  • Mucopolysaccharidosis Type 4a

  • N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency

  • Morquio Syndrome Type A

  • Mps 4a

  • Morquio Disease, Type A

  • Mucopolysaccharidosis 4a

  • Morquio'S Syndrome A

  • Mps Iv A

  • Mucopolysaccharidosis Iv

  • Mucopolysaccharidosis, Mps-Iv-A

Galactosialidosis
  • Goldberg Syndrome

  • Neuraminidase Deficiency With Beta-Galactosidase Deficiency

  • Ppca Deficiency

  • GSL

  • Lysosomal Protective Protein Deficiency

  • Cathepsin A Deficiency

  • Neuraminidase/Beta-Galactosidase Expression

  • Protective Protein/Cathepsin A Deficiency

  • Ngbe

  • Cathepsin A Deficiency Of

  • Lysosomal Protective Protein Deficiency Of

  • Deficiency Of Cathepsin A

  • Neuraminidase Beta-Galactosidase Deficiency

  • Protective Protein Cathepsin A Deficiency

Lysosomal Acid Lipase Deficiency
  • Wolman Disease

  • Cholesteryl Ester Storage Disease

  • Lal Deficiency

  • Lipa Deficiency

  • Cholesterol Ester Storage Disease

  • CESD

  • Cholesterol Ester Hydrolase Deficiency

  • Acid Lipase Deficiency

  • Acid Esterase Deficiency

  • Familial Xanthomatosis

  • Wolman Xanthomatosis

  • Wolman'S Disease

  • Wolman'S Or Triglyceride Storage Type Iii Disease

  • Xanthomatosis, Familial

  • Liposomal Acid Lipase Deficiency, Wolman Type

  • Familial Visceral Xanthomatosis

  • Primary Familial Xanthomatosis

  • Primary Familial Xanthomatosis With Adrenal Calcification

  • Acid Lipase Disease

  • WOD

  • Acid Cholesteryl Ester Hydrolase Deficiency, Type 2

Sphingolipidosis
  • Sphingolipidoses

Mucopolysaccharidosis Iv
  • Morquio Syndrome

  • Mucopolysaccharidosis Type 4

  • Mucopolysaccharidosis Type Iv

  • Morquio Disease

  • Galactosamine-6-Sulfatase Deficiency

  • Mps4

  • Mpsiv

  • Morquio-Brailsford Disease

  • Chondroosteodystrophy

  • Deficiency Of Chondroitinsulphatase

  • Deficiency Of N-Acetylgalactosamine-6-Sulphatase

  • Mucopolysaccharidosis, Mps-Iv

  • Osteochondrodystrophy

  • Morquio'S Disease

  • Morquio'S Syndrome

  • Mps Iv

  • Mucopolysaccharidosis Iv

  • Morquios Syndrome

  • Mucopolysaccharidosis, Mps-Iv-A

  • Mucopolysaccharidosis Type Ivb

  • Galns Deficiency

Krabbe Disease
  • Globoid Cell Leukodystrophy

  • Galactosylceramide Beta-Galactosidase Deficiency

  • Galc Deficiency

  • Galactocerebrosidase Deficiency

  • GLD

  • Globoid Cell Leukoencephalopathy

  • Diffuse Globoid Body Sclerosis

  • Gcl

  • Leukodystrophy, Globoid Cell

  • Krabbe'S Leukodystrophy

  • Krabbe Leukodystrophy

  • KRB

  • Beta Galactocerebrosidase Deficiency

  • Krabbe'S Disease

  • Galactosylceramidase Deficiency Disease

  • Galactosylceramide Lipidosis

  • Galactosylcerebrosidase Deficiency

  • Galactosylsphingosine Lipidosis

  • Psychosine Lipidosis

  • Galactosylceramidase Deficiency

  • Infantile Globoid Cell Leukodystrophy

  • Krabbe Brain Sclerosis

Mucopolysaccharidosis, Type Iiib
  • Mucopolysaccharidosis Type Iiib

  • MPS3B

  • Naglu Deficiency

  • Mps Iiib

  • Sanfilippo Syndrome B

  • N-Acetyl-Alpha-D-Glucosaminidase Deficiency

  • Mpsiiib

  • Mucopoly-Saccharidosis Type 3b

  • Mucopolysaccharidosis Type 3b

  • N-Acetyl-Alpha-Glucosaminidase Deficiency

  • Sanfilippo Syndrome Type B

  • Mps Iii B

  • Mps 3b

  • Mps Iii-B

  • Mucopolysaccharidosis 3b

Mucopolysaccharidosis, Type Ii
  • Hunter Syndrome

  • Iduronate 2-Sulfatase Deficiency

  • Mucopolysaccharidosis Ii

  • Mps Ii

  • Mucopolysaccharidosis Type Ii

  • MPS2

  • Sulfoiduronate Sulfatase Deficiency

  • Mucopolysaccharidosis, Mps-Ii

  • Ids Deficiency

  • Sids Deficiency

  • I2s Deficiency

  • Mucopolysaccharidosis Type 2

  • Mucopolysaccharidosis Type 2, Severe Form

  • Deficiency Of Iduronate-2-Sulphatase

  • Hunter'S Syndrome

  • Mps Ii - Hunter Syndrome

  • Iduronate-2-Sulfatase Deficiency

  • Attenuated Mps

  • Mps 2

  • Severe Mps Ii

  • Mpsii

  • Mucopolysaccharidosis Type 2, Attenuated Form

  • Hunter Syndrome Type B

  • Iduronate 2-Sulfatase Deficiency Type B

  • Mps2b

  • Mpsiib

  • Mucopolysaccharidosis Type 2b

  • Mucopolysaccharidosis Type Ii, Attenuated Form

  • Mucopolysaccharidosis Type Iib

  • Hunter Syndrome Type A

  • Iduronate 2-Sulfatase Deficiency Type A

  • Mps2a

  • Mpsiia

  • Mucopolysaccharidosis Type 2a

  • Mucopolysaccharidosis Type Ii, Severe Form

  • Mucopolysaccharidosis Type Iia

  • Mucopolysaccharidosis 2

  • Hunters Syndrome

  • Iduronate 2-Sulphatase Deficiency

  • Iduronate Sulfatase Deficiency

  • Iduronate Sulphatase Deficiency

  • Sulfo-Iduronate Sulfatase Deficiency

  • Sulfoiduronidate Sulfatase Deficiency

  • Sulpho-Iduronate Sulphatase Deficiency

  • Sulphoiduronidate Sulphatase Deficiency

  • Mps2 - [Mucopolysaccharidosis 2]

Metachromatic Leukodystrophy
  • Arylsulfatase A Deficiency

  • MLD

  • Arsa Deficiency

  • Sulfatide Lipidosis

  • Metachromatic Leukoencephalopathy

  • Cerebral Sclerosis, Diffuse, Metachromatic Form

  • Cerebroside Sulfatase Deficiency

  • Leukodystrophy, Metachromatic

  • Pseudoarylsulfatase A Deficiency

  • Leukodystrophy Metachromatic

  • Sulfatidosis

  • Metachromatic Leukodystrophy, Late Infantile

  • Metachromatic Leukodystrophy Variant

  • Deficiency Of Cerebroside-Sulfatase

  • Scholz Cerebral Sclerosis

  • Sulfatide Lipoidosis

  • Cerebral Sclerosis Diffuse Metachromatic Form

  • Arylsulfatase A Deficiency Disease

  • Cerebroside Sulphatase Deficiency Disease

  • Greenfield Disease

  • Metachromatic Leukodystrophy, Adult

  • Metachromatic Leukodystrophy, Juvenile

  • Leukodystrophy Metachromatic Adult

  • Leukodystrophy Metachromatic Juvenile

  • Leukodystrophy Metachromatic Late Infantile

  • Metachromatic Leukodystrophy, Adult Type

  • Metachromatic Leukodystrophy, Juvenile Type

  • Metachromatic Leukodystrophy, Infant

  • Greenfield'S Disease

Gaucher Disease, Type Iiic
  • Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome

  • Gaucher-Like Disease

  • GD3C

  • Gaucher'S Disease Type Iiic

  • Cardiovascular Gaucher Disease

  • Gaucher Disease Type 3c

  • Gaucher Disease 3c

  • Pseudo-Gaucher Disease

Lysosomal And Lipase Deficiency
Ceroid Lipofuscinosis, Neuronal, 3
  • Batten Disease

  • Juvenile Neuronal Ceroid Lipofuscinosis

  • Neuronal Ceroid Lipofuscinosis 3

  • CLN3

  • Jncl

  • Spielmeyer-Vogt Disease

  • Vogt-Spielmeyer Disease

  • Spielmeyer-Sjogren Disease

  • Cln3 Disease

  • Neuronal Ceroid Lipofuscinosis, Juvenile

  • Cln3 Disease, Juvenile

  • Spielmeyer Sjogren Disease

  • Vogt Spielmeyer Disease

  • Batten-Mayou Disease

  • Batten-Spielmeyer-Vogt Disease

  • Cln3-Related Neuronal Ceroid-Lipofuscinosis

  • Juvenile Batten Disease

  • Juvenile Cerebroretinal Degeneration

  • Classic Juvenile Ncl

  • Classic Juvenile Neuronal Ceroid Lipofuscinosis

  • Juvenile Ncl

  • Lipofuscinosis, Ceroid, Neuronal, Type 3

Hurler Syndrome
  • Mucopolysaccharidosis Ih

  • Mucopolysaccharidosis Type Ih

  • Mps1-H

  • MPS1H

  • Hurler Disease

  • Mpsih

  • Mucopolysaccharidosis Type 1h

  • Alpha-L-Iduronidase Deficiency

  • Dysostosis Multiplex

  • Dysostosis Multiplex Syndrome

  • Gargoylism

  • Hurler Disease Mps Type 1h

  • Hurler-Pfaundler Syndrome

  • L-Iduronidase Deficiency, Hurler Type

  • Mucopolysaccharidosis Type I Severe Form

  • Mucopolysaccharidosis 1h

  • Hurler'S Syndrome

  • Mps Ih

  • Mps-Ih

  • Pfaundler-Hurler Syndrome

  • Mucopolysaccharidosis I

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

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

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta M6PR VGNC VGNC:74469
Rattus norvegicus M6PR RGD RGD:1359355
Canis familiaris M6PR VGNC VGNC:42908
Felis catus M6PR VGNC VGNC:68120
Bos taurus M6PR VGNC VGNC:31125
Mus musculus M6PR MGD MGI:96904
Others M6PR NCBI