ASAH1 - N-acylsphingosine amidohydrolase 1 Gene

Also Known as AC; PHP; ASAH; PHP32; ACDase; SMAPME

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 427

About ASAH1

Cytogenetic location: 8p22 Genomic coordinates (GRCh38): 8:18,055,992-18,084,961 (from NCBI)

This gene has 68 transcripts (splice variants), 221 orthologues, 1 paralogue and is associated with 6 phenotypes. Broad expression in thyroid (RPKM 225.8), heart (RPKM 191.4) and 24 other tissues.

Summary

This gene encodes a member of the acid Ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in Cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]

ASAH1 Products (4)

mRNA Protein Name
NM_001127505.3 NP_001120977.1 acid ceramidase isoform c
NM_001363743.2 NP_001350672.1 acid ceramidase isoform d
NM_004315.6 NP_004306.3 acid ceramidase isoform b
NM_177924.5 NP_808592.2 acid ceramidase isoform a preproprotein
Molecular Function GO Annotation Evidence References Source
enables N-acylsphingosine amidohydrolase activity IDA
IDA: Inferred from direct assay
7744740 GOA
enables N-acylsphingosine amidohydrolase activity IMP
IMP: Inferred from mutant phenotype
10610716 GOA
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IDA
IDA: Inferred from direct assay
15655246 GOA
enables nuclear receptor binding IPI
IPI: Inferred from physical interaction
22927646 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22927646 GOA
enables transcription corepressor activity IMP
IMP: Inferred from mutant phenotype
22927646 GOA
Biological Process GO Annotation Evidence References Source
involved in ceramide biosynthetic process IDA
IDA: Inferred from direct assay
12764132 GOA
involved in ceramide catabolic process IDA
IDA: Inferred from direct assay
12815059 GOA
involved in ceramide catabolic process IMP
IMP: Inferred from mutant phenotype
10610716 GOA
involved in keratinocyte differentiation IMP
IMP: Inferred from mutant phenotype
17713573 GOA
involved in regulation of steroid biosynthetic process IMP
IMP: Inferred from mutant phenotype
22261821 GOA
involved in sphingosine biosynthetic process IDA
IDA: Inferred from direct assay
12815059 GOA
involved in sphingosine biosynthetic process IMP
IMP: Inferred from mutant phenotype
10610716 GOA
Cellular Component GO Annotation Evidence References Source
NOT located in early endosome IDA
IDA: Inferred from direct assay
12764132 GOA
NOT located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
12764132 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
7744740 GOA
located in lysosome IDA
IDA: Inferred from direct assay
12764132 GOA
located in nucleus IDA
IDA: Inferred from direct assay
22927646 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

ASAH1 Protein Structure

NAAA-beta

NAAA-beta: beta subunit of N-acylethanolamine-hydrolyzing acid amidase (46 - 139)

CBAH

CBAH: Linear amide C-N hydrolases, choloylglycine hydrolase family (143 - 384)

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

acid ceramidase

  • N-acylethanolamine hydrolase ASAH1

ASAH1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ASAH1 Q13510 NR5A1 Homo sapiens Q13285 22927646
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ASAH1 Proteins

Cat. No. Product Name Accession Purity
HY-P71541 ASAH1 Protein, Human (His-SUMO) Q13510 (Q22-W395) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
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

Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
  • Jankovic-Rivera Syndrome

  • SMAPME

  • Sma-Pme

  • Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome

  • Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome

  • Hereditary Myoclonus With Progressive Distal Muscular Atrophy

  • Jankovic Rivera Syndrome

  • Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy

  • Myoclonus Hereditary Progressive Distal Muscular Atrophy

  • Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy

Asah1-Related Disorders
Keloid Formation
  • KLDF

Benign Epilepsy With Centrotemporal Spikes
  • Rolandic Epilepsy

  • Benign Rolandic Epilepsy

  • Epilepsy, Rolandic

  • Bcects

  • Benign Childhood Epilepsy With Centrotemporal Spike

  • Sylvan Seizures

  • Becrs

  • Bects

  • Bre

  • Benign Epilepsy Of Childhood With Centrotemporal Spikes

  • Benign Familial Epilepsy Of Childhood With Rolandic Spikes

  • Centrotemporal Epilepsy

Lipogranulomatosis
  • Erdheim-Chester Disease

  • Lipogranuloma

Spinal Muscular Atrophy
  • Sma

  • 5q Sma

  • Proximal Sma

  • Sma-Associated Sma

  • Spinal Amyotrophies

  • Spinal Amyotrophy

  • Spinal Muscle Degeneration

  • Spinal Muscle Wasting

  • Muscular Atrophy Spinal

  • Atrophy, Muscular, Spinal

  • Hereditary Motor Neuronopathy

  • Progressive Muscular Atrophy

  • Sma - [Spinal Muscular Atrophy]

Muscular Atrophy
  • Muscle Wasting

  • Amyotrophia

  • Wasting - Muscle

  • Skeletal Muscle Atrophy

Fetal Akinesia Deformation Sequence 1
  • Fetal Akinesia Deformation Sequence

  • Fads

  • Fetal Akinesia Sequence

  • FADS1

  • Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

  • Pena-Shokeir Syndrome Type 1

  • Fetal Akinesia Deformation Sequence Syndrome

  • Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

  • Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

  • Pena-Shokeir Syndrome, Type I

  • Foetal Akinesia Deformation Sequence Syndrome

  • Foetal Akinesia Sequence

  • Fetal Akinesia Deformation Sequence Syndrome 1

  • Pena-Shokeir Syndrome, Type 1

  • Pena Shokeir Syndrome, Type 1

  • Akinesia, Fetal, Deformation Sequence

  • Akinesia, Fetal, Deformation Sequence, Type 1

  • Pena-Shokeir Syndrome Type I

Distal Arthrogryposis
  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis

  • Congenital Multiple Arthrogryposis

  • Congenital Arthromyodysplasia

  • Fibrous Ankylosis Of Multiple Joints

  • Guerin-Stern Syndrome

  • Guérin-Stern Syndrome

  • Myodystrophia Fetalis Deformans

  • Otto Syndrome

  • Rocher-Sheldon Syndrome

  • Rossi Syndrome

  • Amc

  • Multiple Congenital Arthrogryposis

  • Arthrogryposis Syndrome

  • Arthrogryposis, Distal

  • Distal Arthrogryposis Syndrome

  • Freeman-Sheldon Syndrome

  • Arthrogryposis, Distal, Type 2b

  • Congenital Multiplex Arthrogryposis

  • Amyoplasia Congenita

  • Congenital Amyoplasia

  • Amc - [Arthrogryposis Multiplex Congenita]

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

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

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

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

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

Charcot-Marie-Tooth Disease, Axonal, Type 2v
  • CMT2V

  • Charcot-Marie-Tooth Disease Axonal Type 2v

  • Charcot-Marie-Tooth Neuropathy, Type 2v

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2v

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2v

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2v

  • Charcot-Marie-Tooth Neuropathy Type 2v

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Naglu Mutation

  • Hereditary Adult-Onset Painful Axonal Polyneuropathy

  • Charcot-Marie-Tooth Disease 2v

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

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

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

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

Malignant Pineal Area Germ Cell Neoplasm
  • Pineal Germ Cell Tumor

  • Malignant Pineal Parenchymal Germ Cell Tumor

  • Pineal Region Germ Cell Tumor

  • Pineal Cell Tumor

  • Pineal Cell Tumour

  • Pineal Region Germinoma

  • Malignant Pineal Region Germ Cell Tumor

  • Pineal Germinoma

Sphingolipidosis
  • Sphingolipidoses

Gm2 Gangliosidosis
  • Gangliosidosis Gm2

  • Gangliosidoses, Gm2

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

Cerebral Arteritis
  • Brain Endarteritis

  • Cerebral Or Cerebrospinal Endarteritis

  • Brain Arteritis

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

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

Progressive Myoclonus Epilepsy
  • Pme

  • Progressive Myoclonic Epilepsy

  • Myoclonic Epilepsies, Progressive

  • Unverricht-Lundborg Syndrome

Intracranial Berry Aneurysm
  • Familial Aneurysmal Subarachnoid Hemorrhage

  • Familial Berry Aneurysm

  • Familial Intracranial Saccular Aneurysm

  • Saccular Cerebral Aneurysm

  • Aneurysm, Intracranial Berry

  • Aneurysmal Subarachnoid Hemorrhage

  • Aneurysm, Intracranial Berry, 1

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'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

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

Gangliosidosis
  • Gangliosidoses

Progressive Myoclonus Epilepsy 4
  • Action Myoclonus-Renal Failure Syndrome

  • Amrf

  • Epm4

  • Myoclonus-Nephropathy Syndrome

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

Nephrotic Syndrome, Type 14
  • Sphingosine Phosphate Lyase Insufficiency Syndrome

  • Nephrotic Syndrome 14

  • NPHS14

  • Splis

  • Nephrotic Syndrome Type 14

  • Sgpl1 Deficiency

  • Steroid-Resistant Nephrotic Syndrome Type 14

  • Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency

  • Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency

Early Myoclonic Encephalopathy
  • Myoclonic Epilepsy

  • Myoclonic Seizure

  • Epilepsies, Myoclonic

  • Epileptic Seizures - Myoclonic

  • Epileptic Seizures, Myoclonic

  • Myoclonia Epileptica

  • Myoclonic Seizure Disorder

  • Early Myoclonic Encephalopathy With Suppression-Bursts

Hereditary Sensory And Autonomic Neuropathy Type 1
  • Hereditary Sensory And Autonomic Neuropathy Type I

  • Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

  • Hsan1e

  • Hsan1

  • Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

  • Hsn1e

  • Hsnie

  • Hereditary Sensory Neuropathy Type Ie

  • Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

  • Hereditary Sensory And Autonomic Neuropathy Type Ie

  • Hereditary Sensory And Autonomic Neuropathy Type 1e

  • Hereditary Sensory Neuropathy With Hearing Loss And Dementia

  • Dnmt1-Complex Disorder

  • Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

  • Hsn Ie

  • Hereditary Sensory Autonomic Neuropathy, Type 1

  • Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

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

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 ASAH1 VGNC VGNC:68326
Macaca mulatta ASAH1 VGNC VGNC:70028
Mus musculus ASAH1 MGD MGI:1277124
Canis familiaris ASAH1 VGNC VGNC:38152
Rattus norvegicus ASAH1 RGD RGD:621568
Bos taurus ASAH1 VGNC VGNC:26183
Others ASAH1 NCBI