SUMF1 - sulfatase modifying factor 1 Gene

Also Known as FGE; UNQ3037; AAPA3037

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 285362

About SUMF1

Cytogenetic location: 3p26.1 Genomic coordinates (GRCh38): 3:4,034,486-4,467,269 (from NCBI)

This gene has 8 transcripts (splice variants), 196 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 5.9), thyroid (RPKM 5.6) and 25 other tissues.

Summary

This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

SUMF1 Products (3)

mRNA Protein Name
NM_001164674.2 NP_001158146.1 formylglycine-generating enzyme isoform 2 precursor
NM_001164675.2 NP_001158147.1 formylglycine-generating enzyme isoform 3 precursor
NM_182760.4 NP_877437.2 formylglycine-generating enzyme isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables cupric ion binding IDA
IDA: Inferred from direct assay
25931126 GOA
enables formylglycine-generating oxidase activity IDA
IDA: Inferred from direct assay
21224894 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
15962010 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15962010 GOA
Biological Process GO Annotation Evidence References Source
involved in post-translational protein modification IDA
IDA: Inferred from direct assay
21224894 GOA
involved in protein oxidation IDA
IDA: Inferred from direct assay
21224894 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
18266766 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

SUMF1 Protein Structure

FGE-sulfatase

FGE-sulfatase: Sulfatase-modifying factor enzyme 1 (90 - 367)

  • 0
  • 100
  • 200
  • 300
  • 374 a.a.
Protein Preferred Names Protein Names

formylglycine-generating enzyme

  • C-alpha-formylglycine-generating enzyme 1

SUMF1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SUMF1 Q8NBK3 SGSH Homo sapiens P51688 15962010
Intra
SUMF1 Q8NBK3 SUMF2 Homo sapiens Q8NBJ7 15962010
Intra
SUMF1 Q8NBK3 SUMF2 Homo sapiens Q8NBJ7
IF
15962010
Intra
SUMF1 Q8NBK3 SUMF2 Homo sapiens Q8NBJ7 15962010
Intra
SUMF1 Q8NBK3 SUMF2 Homo sapiens Q8NBJ7 15962010
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SUMF1 Proteins

Cat. No. Product Name Accession Purity
HY-P71345 SUMF1 Protein, Human (HEK293, His) Q8NBK3-1 (S34-D374) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Multiple Sulfatase Deficiency
  • Mucosulfatidosis

  • MSD

  • Sulfatidosis, Juvenile, Austin Type

  • Multiple Sulfatase Deficiency Disease

  • Juvenile Sulfatidosis, Austin Type

  • Juvenile Sulfatidosis

  • Sulfatidosis Juvenile, Austin Type

  • Austin Syndrome

  • Sulfatidosis Juvenile Austin Type

  • Sulfatase Deficiency, Multiple

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

Spinocerebellar Ataxia 15
  • SCA15

  • Spinocerebellar Ataxia Type 15

  • Spinocerebellar Ataxia Type 16

  • Sca16

  • Spinocerebellar Ataxia Type 15/16

  • Spinocerebellar Ataxia 16, Formerly

  • Sca16, Formerly

  • Spinocerebellar Ataxia 16

  • Sca15/16

  • Ataxia, Spinocerebellar, Type 15

Leukodystrophy
  • Leukodystrophies

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]

Lysosomal Storage Disease
  • Lysosomal Storage Diseases

  • Disorder Of Lysosomal Enzyme

  • Inborn Lysosomal Enzyme Disorder

  • Lysosomal Storage Metabolism Disorder

  • Lysosomal Storage Disorder

X-Linked Chondrodysplasia Punctata 1
  • Chondrodysplasia Punctata 1, X-Linked

  • Arylsulfatase E Deficiency

  • Chondrodystrophia Calcificans Congenita

  • Cdpx1

  • X-Linked Recessive Chondrodysplasia Punctata 1

  • Brachytelephalangic Chondrodysplasia Punctata

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 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

Hurler-Scheie Syndrome
  • Mucopolysaccharidosis Type Ih/S

  • Mucopolysaccharidosis Ih/S

  • MPS1H/S

  • Mpsih/S

  • Mucopolysaccharidosis Type 1h/S

  • Mps1-Hs

  • Alpha-L-Iduronidase Deficiency

  • Mucopolysaccharidosis I

  • Mucopolysaccharidosis 1h/S

  • Mps-Ih/S

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

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

Ichthyosis, X-Linked
  • X-Linked Ichthyosis

  • Steroid Sulfatase Deficiency

  • Placental Steroid Sulfatase Deficiency

  • Steroid Sulfatase Deficiency Disease

  • XLI

  • Sts Deficiency

  • Ssdd

  • X-Linked Recessive Ichthyosis

  • X-Linked Ichthyosis With Steryl-Sulphatase Deficiency

  • X-Linked Placental Steryl-Sulphatase Deficiency

  • Ssd

  • X Linked Ichthyosis

  • Recessive X-Linked Ichthyosis

  • Rxli

  • Syndromic Recessive X-Linked Ichthyosis

  • Recessive X-Linked Ichthyosis With Extracutaneous Manifestations

  • Syndromic Rxli

  • X-Linked Ichthyosis Syndrome

  • IXL

  • Ichthyosis X-Linked

  • Sex-Linked Ichthyosis

  • X-Linked Ichthyosis With Steryl-Sulfatase Deficiency

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

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

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]

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 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

Spinocerebellar Ataxia 25
  • Spinocerebellar Ataxia Type 25

  • SCA25

Ichthyosis
  • Ichthyoses

  • Non-Syndromic Ichthyosis

  • Congenital Ichthyosis

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 Palsy, Ataxic, Autosomal Recessive
  • Ataxic Cerebral Palsy

  • Acp

  • Hypotonic Cerebral Palsy

  • Cerebral Palsy Ataxic

  • Cerebral Palsy, Atonic

  • Congenital Cerebral Palsy With Ataxia

  • Ataxic Cerebral Paralysis

  • Ataxia With Cerebral Palsy

  • Cerebral Infantile Diataxia

Kanzaki Disease
  • Alpha-N-Acetylgalactosaminidase Deficiency Type 2

  • Naga Deficiency Type 2

  • Schindler Disease, Type Ii

  • Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency

  • Schindler Disease Type 2

  • Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii

  • Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset

  • Naga Deficiency, Type Ii

  • Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset

  • KANZD

  • Naga Deficiency Type Ii

  • Schindler Disease Type Ii

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 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

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

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

Canavan Disease
  • Aspartoacylase Deficiency

  • Aminoacylase 2 Deficiency

  • Spongy Degeneration Of Central Nervous System

  • Aspa Deficiency

  • Acy2 Deficiency

  • Canavan-Van Bogaert-Bertrand Disease

  • Mild Canavan Disease

  • Asp Deficiency

  • Spongy Degeneration Of The Central Nervous System

  • Severe Canavan Disease

  • Von Bogaert-Bertrand Disease

  • Canavan'S Disease

  • Spongy Degeneration Of The Brain

  • Juvenile Canavan Disease

  • Infantile Canavan Disease

  • Neonatal Canavan Disease

  • CAND

  • Disease, Canavan

  • Canavan Disease, Juvenile

  • Canavan Disease, Infantile

  • Canavan Disease, Neonatal

Sphingolipidosis
  • Sphingolipidoses

Gillespie Syndrome
  • GLSP

  • Aniridia, Cerebellar Ataxia And Mental Deficiency

  • Aniridia Cerebellar Ataxia Mental Deficiency

  • Aniridia, Cerebellar Ataxia, And Mental Retardation

  • Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome

  • Aniridia-Cerebellar Ataxia-Intellectual Disability

  • Aniridia-Cerebellar Ataxia-Mental Deficiency

  • Partial Aniridia-Cerebellar Ataxia-Oligophrenia

  • Aniridia, Cerebellar Ataxia, And Intellectual Disability

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

Gangliosidosis
  • Gangliosidoses

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

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

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
Mus musculus SUMF1 MGD MGI:1889844
Felis catus SUMF1 VGNC VGNC:65840
Canis familiaris SUMF1 VGNC VGNC:46982
Macaca mulatta SUMF1 VGNC VGNC:78177
Bos taurus SUMF1 VGNC VGNC:35471
Others SUMF1 NCBI