GLB1 - galactosidase beta 1 Gene

Also Known as EBP; ELNR1; MPS4B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2720

About GLB1

Cytogenetic location: 3p22.3 Genomic coordinates (GRCh38): 3:32,961,108-33,097,146 (from NCBI)

This gene has 19 transcripts (splice variants), 202 orthologues, 3 paralogues and is associated with 9 phenotypes. Ubiquitous expression in thyroid (RPKM 28.5), placenta (RPKM 24.5) and 25 other tissues.

Summary

This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and Other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]

GLB1 Products (5)

mRNA Protein Name
NM_000404.4 NP_000395.3 beta-galactosidase isoform a preproprotein
NM_001079811.3 NP_001073279.2 beta-galactosidase isoform b
NM_001135602.3 NP_001129074.2 beta-galactosidase isoform c precursor
NM_001317040.2 NP_001303969.2 beta-galactosidase isoform d precursor
NM_001393580.1 NP_001380509.1 beta-galactosidase isoform e precursor
Molecular Function GO Annotation Evidence References Source
enables beta-galactosidase activity IDA
IDA: Inferred from direct assay
11927518 GOA
enables beta-galactosidase activity IMP
IMP: Inferred from mutant phenotype
25936995 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15498789 GOA
enables protein homodimerization activity IPI
IPI: Inferred from physical interaction
22128166 GOA
Biological Process GO Annotation Evidence References Source
involved in carbohydrate metabolic process IDA
IDA: Inferred from direct assay
11927518 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
11927518 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

GLB1 Protein Structure

Glyco_hydro_35

Glyco_hydro_35: Glycosyl hydrolases family 35 (40 - 356)

  • 0
  • 200
  • 400
  • 600
  • 677 a.a.
Protein Preferred Names Protein Names

beta-galactosidase

  • acid beta-galactosidase

GLB1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GLB1 P16278 SLC10A6 Homo sapiens Q3KNW5 32296183
Intra
GLB1 P16278 SLC10A6 Homo sapiens Q3KNW5 32296183
Intra
GLB1 P16278 SLC10A6 Homo sapiens Q3KNW5 32296183
Intra
GLB1 P16278 SLC7A1 Homo sapiens P30825 32296183
Intra
GLB1 P16278 SLC7A1 Homo sapiens P30825 32296183
Intra
GLB1 P16278 SLC7A1 Homo sapiens P30825 32296183
Intra
GLB1 P16278 GOLM1 Homo sapiens Q8NBJ4 32296183
Intra
GLB1 P16278 GOLM1 Homo sapiens Q8NBJ4 32296183
Intra
GLB1 P16278 GOLM1 Homo sapiens Q8NBJ4 32296183
Intra
GLB1 P16278 SLC30A2 Homo sapiens Q9BRI3 32296183
Intra
GLB1 P16278 SLC30A2 Homo sapiens Q9BRI3 32296183
Intra
GLB1 P16278 SLC30A2 Homo sapiens Q9BRI3 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GLB1 Proteins

Cat. No. Product Name Accession Purity
HY-P70303 Beta-galactosidase/GLB1 Protein, Human (HEK293, His) P16278-1 (L24-V677) ≥ 95%, as determined by reducing SDS-PAGE.

GLB1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83071 GLB1/Beta-galactosidase Antibody (YA2816) WB, FC Human, Mouse, Rat
HY-P85871 GLB1/Beta-galactosidase Antibody (YA5563) WB, ICC/IF, ELISA Human, Mouse, Rat
HY-P86441 GLB1/Beta-galactosidase Antibody (YA6133) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Gm1-Gangliosidosis, Type I
  • Gm1 Gangliosidosis Type 1

  • Beta-Galactosidase-1 Deficiency

  • Infantile Gm1 Gangliosidosis

  • GM1G1

  • Gangliosidosis, Generalized Gm1, Type 1

  • Glb1 Deficiency

  • Gangliosidosis Generalized Gm1 Type 1

  • Gangliosidosis, Generalized Gm1, Type I

  • Gangliosidosis, Generalized Gm1, Infantile Form

  • Beta Galactosidase Deficiency Type 1

  • Glb Deficiency Type 1

  • Gangliosidosis Generalized Gm1 Infantile Form

  • Norman-Landing Disease

  • Gm1-Gangliosidosis 1

  • Gangliosidosis Generalized Gm1 Infantile Type

  • Gm1-Gangliosidosis Infantile

  • Gangliosidosis Gm1 Infantile

  • Gangliosidosis, Gm1, Type I

  • Gangliosidosis Gm1

  • Beta-Galactosidase Deficiency

Gm1-Gangliosidosis, Type Ii
  • Gm1 Gangliosidosis Type 2

  • GM1G2

  • Gangliosidosis, Generalized Gm1, Type 2

  • Juvenile Gm1 Gangliosidosis

  • Gangliosidosis Generalized Gm1 Type 2

  • Gangliosidosis, Generalized Gm1, Juvenile Type

  • Gangliosidosis, Generalized Gm1, Type Ii

  • Gangliosidosis Generalized Gm1 Juvenile Type

  • Late-Infantile Gm1 Gangliosidosis

  • Gm1-Gangliosidosis 2

  • Gangliosidosis Generalized Gm1 Late Infantile Type

  • Gm1-Gangliosidosis Generalized Juvenile Type

  • Gangliosidosis, Gm1, Type Ii

Gm1-Gangliosidosis, Type Iii
  • Gm1 Gangliosidosis Type 3

  • GM1G3

  • Gangliosidosis, Generalized Gm1, Type 3

  • Adult-Onset Gm1 Gangliosidosis

  • Gangliosidosis Gm1 Type 3

  • Gangliosidosis Generalized Gm1 Chronic Type

  • Gangliosidosis, Generalized Gm1, Adult Type

  • Gangliosidosis, Generalized Gm1, Chronic Type

  • Gangliosidosis, Generalized Gm1, Type Iii

  • Adult Gm1 Gangliosidosis

  • Beta-Galactosidase Deficiency Type 3

  • Gm1-Gangliosidosis 3

  • Gangliosidosis Generalized Gm1 Type 3

  • Gm1-Gangliosidosis Generalized Adult Type

  • Gangliosidosis, Gm1 Type Iii

Mucopolysaccharidosis, Type Ivb
  • Mucopolysaccharidosis Type Ivb

  • Mps Ivb

  • MPS4B

  • Morquio Syndrome B

  • Beta-D-Galactosidase Deficiency

  • Morquio Disease Type B

  • Mps 4b

  • Mucopolysaccharidosis Type 4b

  • Mpsivb

  • Morquio Disease, Type B

  • Mucopolysaccharidosis Type Iv-B

  • Mucopolysaccharidosis 4b

  • Morquio'S Syndrome B

  • Mps-Ivb

Gm1 Gangliosidosis
  • Beta-Galactosidase Deficiency

  • Gangliosidosis Gm1

  • Deficiency Of Beta-Galactosidase

  • Beta Galactosidase 1 Deficiency

  • Beta-Galactosidosis

  • Glb 1 Deficiency

  • Beta-Galactosidase-1 Deficiency

  • Beta-Galactosidase-1 Deficiency

  • Glb1 Deficiency

  • Landing Disease

  • Gangliosidosis, Gm1

Glb1-Related Disorders
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
  • Spondyloepiphyseal Dysplasia

  • Chst3-Related Skeletal Dysplasia

  • Humerospinal Dysostosis

  • Spondyloepiphyseal Dysplasia, Omani Type

  • Chondrodysplasia With Multiple Dislocations

  • SEDCJD

  • Hsd

  • Cdmd

  • Humero-Spinal Dysostosis

  • Kozlowski Celermajer Tink Syndrome

  • Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

  • Larsen Syndrome, Recessive Type

  • Humero-Spinal Dysostosis With Congenital Heart Disease

  • Omani Type

  • Sed

  • Chst3 Deficiency

  • Chst3-Related Dysplasia

  • Recessive Larsen Syndrome

  • Autosomal Recessive Larsen Syndrome

  • Sed With Luxations, Chst3 Type

  • Sed, Omani Type

  • Sdcd, Chst3 Type

  • Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

  • Sed Omani Type

  • Spondyloepiphyseal Dysplasia Omani Type

  • Larsen Syndrome, Autosomal Recessive

  • Mucopolysaccharidosis Iv

  • Spondyloepiphyseal Dysplasia, Congenita

Spastic Ataxia
  • Spax

  • Ataxia, Spastic

Gangliosidosis
  • Gangliosidoses

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

Lysosomal Storage Disease
  • Lysosomal Storage Diseases

  • Disorder Of Lysosomal Enzyme

  • Inborn Lysosomal Enzyme Disorder

  • Lysosomal Storage Metabolism Disorder

  • Lysosomal Storage Disorder

Glycoproteinosis
  • Sialidosis

  • Mucolipidosis Type I

  • Mucolipidoses

  • Cherry Red Spot Myoclonus Syndrome

  • Mucolipidosis I

  • Myoclonus Cherry Red Spot Syndrome

  • Type I Mucolipidosis

  • Lipomucopolysaccharidosis

  • Disorders Of Glycoprotein Metabolism

  • Glycoprotein Storage Disorder

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

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

Cerebral Lipidosis
Mongolian Spot
  • Mongolian Macula

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]

Gm2-Gangliosidosis, Ab Variant
  • Hexosaminidase Activator Deficiency

  • Tay-Sachs Disease, Ab Variant

  • Gm2 Gangliosidosis, Ab Variant

  • Gm2 Activator Deficiency

  • Tay-Sachs Disease, Variant Ab

  • Tay-Sachs Disease Ab Variant

  • Ab Variant Gm2-Gangliosidosis

  • Tay-Sachs Variant Ab

  • Ab Variant

  • Activator Deficiency/Gm2 Gangliosidosis

  • Activator-Deficient Tay-Sachs Disease

  • Gm2 Activator Deficiency Disease

  • Gm2 Gangliosidosis, Type Ab

  • Gm2-Gangliosidosis Ab

  • GM2GAB

  • Gm2-Gangliosidosis Ab Variant

  • Gangliosidosis Gm2 Ab Variant

  • Gm2-Gangliosidosis, Variant Ab

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

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Sphingolipidosis
  • Sphingolipidoses

Sandhoff Disease
  • Total Hexosaminidase Deficiency

  • Hexosaminidases A And B Deficiency

  • Sandhoff Disease, Infantile, Juvenile, And Adult Forms

  • Beta-Hexosaminidase-Beta-Subunit Deficiency

  • Gm2 Gangliosidosis, Type 2

  • Hexosaminidase A And B Deficiency Disease

  • Sandhoff-Jatzkewitz-Pilz Disease

  • Gm2 Gangliosidosis, Type Ii

  • Sandhoff Disease, Infantile Form

  • Sandhoff Disease, Adult Form

  • Sandhoff Disease, Juvenile Form

  • Gm2-Gangliosidosis, Type Ii

  • Sandhoff Jatzkewitz Disease

  • Type Ii Gm2 Gangliosidosis

  • Gm2 Gangliosidosis, 0 Variant

  • Gm2 Gangliosidosis 0 Variant

  • Hexosaminidases A And B Deficiency, Infantile Form

  • Infantile Gm2 Gangliosidosis 0 Variant

  • Adult Gm2 Gangliosidosis 0 Variant

  • Hexosaminidases A And B Deficiency, Adult Form

  • Hexosaminidases A And B Deficiency, Juvenile Form

  • Juvenile Gm2 Gangliosidosis 0 Variant

  • Gm2-Gangliosidosis 2

  • GM2G2

  • Hexosaminidase A And B Deficiency

  • Sd

Gm2 Gangliosidosis
  • Gangliosidosis Gm2

  • Gangliosidoses, Gm2

Mucopolysaccharidosis, Type Iiid
  • Mucopolysaccharidosis Type Iiid

  • MPS3D

  • Mps Iiid

  • N-Acetylglucosamine-6-Sulfatase Deficiency

  • Sanfilippo Syndrome D

  • Gns Deficiency

  • Mucopolysaccharidosis Type 3d

  • Sanfilippo Syndrome Type D

  • Glucosamine N-Acetyl-6-Sulfatase Deficiency

  • Mpsiiid

  • Mps 3d

  • Mucopoly-Saccharidosis Type 3d

  • N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency

  • Mps Iii-D

  • Mucopolysaccharidosis 3d

  • Sanfilippo D Syndrome

  • Mps Iii D

Costello Syndrome
  • Faciocutaneoskeletal Syndrome

  • Fcs Syndrome

  • Congenital Myopathy With Excess Of Muscle Spindles

  • CSTLO

  • CMEMS

  • Fcss

  • Myopathy, Congenital, With Excess Of Muscle Spindles

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

Lactase Deficiency, Congenital
  • Congenital Lactase Deficiency

  • Disaccharide Intolerance Ii

  • Congenital Alactasia

  • Congenital Alactasia Syndrome

  • Congenital Lactose Intolerance

  • Congenital Lactose Malabsorption

  • Hereditary Alactasia

  • Alactasia, Congenital

  • Cld

  • COLACD

  • Disaccharide Intolerance Type 2

  • Cld - [Congenital Lactase Deficiency]

  • Disaccharide Intolerance 2

  • Lactose Intolerance Of Newborn

  • Hereditary Lactase Deficiency

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

Fucosidosis
  • Alpha-L-Fucosidase Deficiency

  • Fucosidase Deficiency Disease

  • A-Fucosidase Deficiency

  • Alpha Fucosidase Deficiency

  • Lysosomal Storage Disease Caused By Defective Alpha-L-Fucosidase With Accumulation Of Fucose In The Tissues

  • Alpha-Fucosidase Deficiency

  • Fucosidase Deficiency

  • FUCA1D

Mucopolysaccharidosis, Type Iiic
  • Mucopolysaccharidosis Type Iiic

  • MPS3C

  • Mps Iiic

  • Sanfilippo Syndrome C

  • Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency

  • Hgsnat Deficiency

  • Mpsiiic

  • Mucopolysaccharidosis Type 3c

  • Sanfilippo Syndrome Type C

  • Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency

  • Mucopoly-Saccharidosis Type 3c

  • Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency

  • Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency

  • Mps 3c

  • Mps Iii-C

  • Mucopolysaccharidosis 3c

  • Mucopolysaccharidosis Iii

  • Mps Iii C

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

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

Gingival Hypertrophy
  • Hypertrophy Of Gingivae

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 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

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, 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

Mucolipidosis
Lactose Intolerance
  • Lactose Malabsorption

  • Lm - Lactose Malabsorption

  • Alactasia

  • Dairy Product Intolerance

  • Hypolactasia

  • Milk Sugar Intolerance

  • Cow Milk Enteropathy

  • Intolerance Or Malabsorption Of Lactose

  • Lm - [Lactose Malabsorption]

  • Milk Intolerance

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

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

Mitochondrial Complex Iv Deficiency, Nuclear Type 1
  • Cytochrome C Oxidase Deficiency

  • Mitochondrial Complex Iv Deficiency

  • Cox Deficiency

  • Cytochrome-C Oxidase Deficiency Disease

  • MC1DN4

  • Cytochrome-C Oxidase Deficiency

  • MC4DN1

  • Mitochondrial Complex I Deficiency, Nuclear Type 4

  • Complex 4 Mitochondrial Respiratory Chain Deficiency

  • Complex Iv Deficiency

  • Mitochondrial Complex 1 Deficiency, Nuclear Type 4

  • Nuclear Type Mitochondrial Complex I Deficiency 4

  • Deficiency Of Mitochondrial Respiratory Chain Complex4

  • MT-C4D

  • Complex Iv Mitochondrial Respiratory Chain Deficiency

  • Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency

  • Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

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
Felis catus GLB1 VGNC VGNC:97179
Mus musculus GLB1 MGD MGI:88151
Bos taurus GLB1 VGNC VGNC:29391
Macaca mulatta GLB1 VGNC VGNC:84176
Canis familiaris GLB1 VGNC VGNC:41249
Rattus norvegicus GLB1 RGD RGD:1597145
Others GLB1 NCBI