PSAP - prosaposin Gene

Also Known as GLBA; SAP1; SAP2; PSAPD; PARK24

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5660

About PSAP

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:71,816,298-71,851,251 (from NCBI)

This gene has 4 transcripts (splice variants), 228 orthologues, 2 paralogues and is associated with 12 phenotypes. Ubiquitous expression in spleen (RPKM 523.6), gall bladder (RPKM 491.5) and 25 other tissues.

Summary

This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

PSAP Products (3)

mRNA Protein Name
NM_001042465.3 NP_001035930.1 prosaposin isoform b preproprotein
NM_001042466.3 NP_001035931.1 prosaposin isoform c preproprotein
NM_002778.4 NP_002769.1 prosaposin isoform a preproprotein
Molecular Function GO Annotation Evidence Références Source
enables ganglioside GM1 binding IDA
IDA: Inferred from direct assay
1454804 GOA
enables ganglioside GM2 binding IDA
IDA: Inferred from direct assay
1454804 GOA
enables ganglioside GM3 binding IDA
IDA: Inferred from direct assay
1454804 GOA
enables ganglioside GP1c binding IDA
IDA: Inferred from direct assay
1454804 GOA
enables ganglioside GT1b binding IDA
IDA: Inferred from direct assay
1454804 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
18462685 GOA
enables phospholipid binding IDA
IDA: Inferred from direct assay
14674747 GOA
enables protease binding IPI
IPI: Inferred from physical interaction
24872419 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16713569 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
18462685 GOA
enables scaffold protein binding IPI
IPI: Inferred from physical interaction
23555801 GOA
Biological Process GO Annotation Evidence Références Source
involved in ganglioside GM1 transport to membrane IDA
IDA: Inferred from direct assay
1454804 GOA
involved in lysosomal transport IDA
IDA: Inferred from direct assay
26370502 GOA
involved in lysosomal transport IMP
IMP: Inferred from mutant phenotype
28541286 GOA
involved in positive regulation of beta-galactosidase activity IDA
IDA: Inferred from direct assay
1454804 GOA
Cellular Component GO Annotation Evidence Références Source
located in extracellular space IDA
IDA: Inferred from direct assay
1454804 GOA
located in late endosome IDA
IDA: Inferred from direct assay
26370502 GOA
located in lysosome IDA
IDA: Inferred from direct assay
22431521 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

PSAP Protein Structure

SapA

SapA: Saposin A-type domain (21 - 54)

SapB_1

SapB_1: Saposin-like type B, region 1 (61 - 98)

SapB_2

SapB_2: Saposin-like type B, region 2 (105 - 138)

SapB_1

SapB_1: Saposin-like type B, region 1 (195 - 234)

SapB_2

SapB_2: Saposin-like type B, region 2 (238 - 271)

SapB_1

SapB_1: Saposin-like type B, region 1 (313 - 350)

SapB_2

SapB_2: Saposin-like type B, region 2 (354 - 388)

SapB_1

SapB_1: Saposin-like type B, region 1 (407 - 444)

SapB_2

SapB_2: Saposin-like type B, region 2 (449 - 482)

SapA

SapA: Saposin A-type domain (491 - 524)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 524 a.a.
Protein Preferred Names Protein Names

prosaposin

  • proactivator polypeptide

PSAP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
PSAP P07602 PEX5 Homo sapiens P50542-3 32296183
Intra
PSAP P07602 PEX5 Homo sapiens P50542-3 32296183
Intra
PSAP P07602 PEX5 Homo sapiens P50542-3 32296183
Intra
PSAP P07602 ZBED1 Homo sapiens O96006 16713569
Intra
PSAP P07602 ZBED1 Homo sapiens O96006 32296183
Intra
PSAP P07602 ZBED1 Homo sapiens O96006 32296183
Intra
PSAP P07602 APPBP2 Homo sapiens Q92624 32296183
Intra
PSAP P07602 APPBP2 Homo sapiens Q92624 32296183
Intra
PSAP P07602 APPBP2 Homo sapiens Q92624 32296183
Intra
PSAP P07602 GRN Homo sapiens P28799
IF
26370502
Intra
PSAP P07602 LYN Homo sapiens P07948 32814053
Intra
PSAP P07602 LYN Homo sapiens P07948 32814053
Intra
PSAP P07602 LYN Homo sapiens P07948 32814053
Intra
PSAP P07602 CSNK1D Homo sapiens P48730-2 32814053
Intra
PSAP P07602 CSNK1D Homo sapiens P48730-2 32814053
Intra
PSAP P07602 CSNK1D Homo sapiens P48730-2 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PSAP Proteins

Cat. No. Nom du produit Accession Pureté
HY-P76553 PSAP/Prosaposin Protein, Human (HEK293, His) NP_002769.1 (G17-N524) ≥ 95%, as determined by reducing SDS-PAGE.

PSAP Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P82938 PSAP Antibody (YA2683) WB, IHC-P Human
HY-P83993 PSAP Antibody (YA3690) WB, IHC-P, ICC/IF, FC, ELISA Human, Rat
HY-P83993A PSAP Antibody (YA3690)(PBS only) WB, IHC-P, ICC/IF, FC, ELISA Human, Rat

Related Diseases

Diseases Alias
Gaucher Disease, Atypical, Due To Saposin C Deficiency
  • Gaucher Disease, Atypical

  • Atypical Gaucher Disease Due To Saposin C Deficiency

  • Atypical Gaucher Disease

  • GDSAPC

  • Saposin C Deficiency

  • Atypical Gaucher'S Disease Due To Saposin C Deficiency

  • AGD

Combined Saposin Deficiency
  • Encephalopathy Due To Prosaposin Deficiency

  • Combined Sap Deficiency

  • PSAPD

  • Prosaposin Deficiency

  • Combined Prosaposin Deficiency

  • CSAPD

  • Saposin Deficiency, Combined

Metachromatic Leukodystrophy Due To Saposin B Deficiency
  • Metachromatic Leukodystrophy Due To Cerebroside Sulfatase Activator Deficiency

  • Saposin B Deficiency

  • Metachromatic Leukodystrophy Due To Sap-B Deficiency

  • MLDSAPB

  • Metachromatic Leukodystrophy Due To Saposin-B Deficiency

  • MLD-SAPB

  • Activator Deficiency

  • Leukodystrophy, Metachromatic, Due To Saposin-B Deficiency

Krabbe Disease, Atypical, Due To Saposin A Deficiency
  • Saposin A Deficiency

  • Krabbe Disease, Atypical

  • KRBSAPA

  • Krabbe Disease Atypical Due To Saposin A Deficiency

  • AKRD

Parkinson Disease 24, Autosomal Dominant
  • Parkinson Disease 24, Autosomal Dominant, Susceptibility To

  • PARK24

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

Infantile Krabbe Disease
  • Krabbe Disease, Classic Form

  • Krabbe Disease, Early-Onset

  • Infantile Globoid Cell Leukodystrophy

Metachromatic Leukodystrophy, Adult Form
  • Arylsulfatase A Deficiency, Adult Form

  • Mld, Adult Form

Metachromatic Leukodystrophy, Late Infantile Form
  • Arylsulfatase A Deficiency, Late Infantile Form

  • Mld, Late Infantile Form

Metachromatic Leukodystrophy, Juvenile Form
  • Arylsulfatase A Deficiency, Juvenile Form

  • Mld, Juvenile Form

Hereditary Late-Onset Parkinson Disease
  • Autosomal Dominant Late-Onset Parkinson Disease

  • Lopd

  • Hereditary Late Onset Parkinson Disease

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Sphingolipidosis
  • Sphingolipidoses

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

Leukodystrophy
  • Leukodystrophies

Gm2 Gangliosidosis
  • Gangliosidosis Gm2

  • Gangliosidoses, Gm2

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

Gangliosidosis
  • Gangliosidoses

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

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

Gaucher Disease, Type Iii
  • Gaucher Disease, Subacute Neuronopathic Type

  • Gd Iii

  • Gaucher Disease, Chronic Neuronopathic Type

  • Gaucher Disease, Juvenile And Adult, Cerebral

  • Gaucher Disease Type 3

  • GD3

  • Gaucher'S Disease Type Iii

  • Gaucher Disease Type Iii

  • Gd 3

  • Cerebral Juvenile And Adult Form Of Gaucher Disease

  • Chronic Neuronopathic Gaucher Disease

  • Gaucher Disease 3

  • Cerebral, Juvenile And Adult, Gaucher Disease

  • Gaucher Disease Chronic Neuronopathic Type

  • Gaucher Disease Type Ii

  • Subacute Neuronopathic Gaucher Disease

  • Type 3 Gaucher Disease

  • Gaucher Disease, Type 3

  • Gaucher Disease, Type 2

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

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

Gaucher Disease, Type Ii
  • GD2

  • Gd Ii

  • Gaucher Disease, Acute Neuronopathic Type

  • Gaucher Disease Type 2

  • Gaucher Disease Type Ii

  • Gaucher'S Disease Type Ii

  • Infantile Cerebral Gaucher Disease

  • Acute Neuronopathic Gaucher Disease

  • Gd 2

  • Gaucher Disease, Infantile Cerebral

  • Gaucher Disease 2

  • Type 2 Gaucher Disease

  • Gaucher Disease, Type 2

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

Bacterial Gastritis
Gaucher Disease, Type I
  • Glucocerebrosidase Deficiency

  • Acid Beta-Glucosidase Deficiency

  • Gba Deficiency

  • GD1

  • Gd I

  • Gaucher Disease, Noncerebral Juvenile

  • Gaucher Disease Type 1

  • Gaucher Disease Type I

  • Gaucher'S Disease Type I

  • Gaucher Disease

  • Gd 1

  • Non-Cerebral Juvenile Gaucher Disease

  • GD

  • Gaucher Disease 1

  • Adult Non-Neuronopathic Gaucher Disease

  • Noncerebral Juvenile Gaucher Disease

  • Type 1 Gaucher Disease

  • Gaucher Disease, Type 1

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

Niemann-Pick Disease, Type C1
  • Niemann-Pick Disease, Type C

  • NPC1

  • Niemann-Pick Disease, Type D

  • Niemann-Pick Disease Type C1

  • Niemann-Pick Disease With Cholesterol Esterification Block

  • Niemann-Pick Disease, Subacute Juvenile Form

  • Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

  • Npc

  • Niemann-Pick Disease, Chronic Neuronopathic Form

  • Niemann-Pick Disease Without Sphingomyelinase Deficiency

  • Niemann-Pick Disease Type C

  • Niemann-Pick Disease Type D

  • Niemann-Pick C1 Disease

  • Niemann-Pick Disease C1

  • Niemann-Pick Disease Chronic Neuronopathic Form

  • Niemann-Pick Disease Nova Scotian Type

  • Niemann-Pick Disease Subacute Juvenile Form

  • Niemann-Pick Disease Type Ii

  • Niemann-Picks Disease Type C

Schindler Disease
  • Alpha-N-Acetylgalactosaminidase Deficiency

  • Naga Deficiency

  • Alpha-Galactosidase B Deficiency

  • Alpha-Galnac Deficiency, Schindler Type

  • Alpha-Naga Deficiency

  • Angiokeratoma Corporis Diffusum-Glycopeptiduria

  • Galb Deficiency

  • Kanzaki Disease

  • Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum

  • Neuroaxonal Dystrophy, Schindler Type

  • Neuronal Axonal Dystrophy, Schindler Type

  • Schindler Disease, Type I

  • Schindler Disease, Type Ii

Gaucher Disease, Perinatal Lethal
  • Gaucher Disease Perinatal Lethal

  • Gaucher Disease, Collodion Type

  • Gaucher'S Disease Perinatal Lethal

  • Fetal Gaucher Disease

  • Perinatal Lethal Gaucher Disease

  • Gaucher Disease Collodion Type

  • Gaucher Disease, Perinatal-Lethal Form

  • GDPL

Lysosomal Storage Disease
  • Lysosomal Storage Diseases

  • Disorder Of Lysosomal Enzyme

  • Inborn Lysosomal Enzyme Disorder

  • Lysosomal Storage Metabolism Disorder

  • Lysosomal Storage Disorder

Farber Lipogranulomatosis
  • Farber Disease

  • Acid Ceramidase Deficiency

  • Ceramidase Deficiency

  • Ac Deficiency

  • N-Laurylsphingosine Deacylase Deficiency

  • Farber'S Disease

  • FRBRL

  • Farber'S Lipogranulomatosis

  • Acylsphingosine Deacylase Deficiency

  • Farber-Uzman Syndrome

  • Acy

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

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

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

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

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

Aspartylglucosaminuria
  • Aspartylglycosaminuria

  • Glycosylasparaginase Deficiency

  • Aspartylglucosaminidase Deficiency

  • Aga Deficiency

  • AGU

  • Aspartylglucosamidase Deficiency

  • Glycoasparaginase

  • Aspartylglucosamidase Deficiency

  • Hyperammonemia, Type Iii

Mucolipidosis
Niemann-Pick Disease, Type A
  • Niemann-Pick Disease Type A

  • Sphingomyelin Lipidosis

  • Sphingomyelinase Deficiency

  • Niemann-Pick Disease, Intermediate, Protracted Neurovisceral

  • Acid Sphingomyelinase Deficiency, Neurovisceral Type

  • Asmd, Neurovisceral Type

  • Infantile Neurovisceral Acid Sphingomyelinase Deficiency

  • Infantile Neurovisceral Asmd

  • Npd-A

  • Niemann-Pick Disease A

  • NPDA

  • Classical Niemann-Pick Disease

  • Niemann-Pick Disease Acute Neuronopathic Form

  • Niemann-Pick Disease Acute Neurovisceral Form

  • Niemann-Pick Disease Classical Infantile Form

  • Niemann-Pick Disease Intermediate Protracted Neurovisceral

  • Niemann-Pick Disease Neuronopathic Type

  • Niemann-Pick Disease Type I

  • Npa

  • Niemann-Pick Diseases

Niemann-Pick Disease, Type B
  • Niemann-Pick Disease Type B

  • Acid Sphingomyelinase Deficiency, Visceral Type

  • Asmd, Visceral Type

  • Niemann Pick Disease Type B

  • Chronic Visceral Acid Sphingomyelinase Deficiency

  • Chronic Visceral Asmd

  • Npd-B

  • Niemann-Pick Disease B

  • NPDB

  • Niemann-Pick Disease Adult Non-Neuronopathic Form

  • Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression

  • Niemann-Pick Disease Type E

  • Niemann-Pick Disease Type F

  • Niemann-Pick Disease Type I

  • Niemann-Pick Disease Visceral Form

  • Npb

  • Sphingomyelinase Deficiency

  • Sphingomyelin Lipidosis

  • Niemann-Picks Disease Type B

  • Niemann-Pick Disease, Type E

  • Niemann-Pick Diseases

  • Niemann-Pick Disease, Type A

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

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 PSAP VGNC VGNC:45080
Bos taurus PSAP VGNC VGNC:33431
Rattus norvegicus PSAP RGD RGD:3423
Felis catus PSAP VGNC VGNC:69093
Macaca mulatta PSAP VGNC VGNC:76434
Mus musculus PSAP MGD MGI:97783
Others PSAP NCBI