ADSL - adenylosuccinate lyase Gene

Also Known as ASL; AMPS; ASASE

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 158

About ADSL

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:40,346,500-40,387,527 (from NCBI)

This gene has 35 transcripts (splice variants), 215 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 10.5), testis (RPKM 9.0) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

ADSL Products (7)

mRNA	Protein	Name
NM_000026.4	NP_000017.1	adenylosuccinate lyase isoform a
NM_001123378.3	NP_001116850.1	adenylosuccinate lyase isoform b
NM_001317923.2	NP_001304852.1	adenylosuccinate lyase isoform c
NM_001363840.3	NP_001350769.1	adenylosuccinate lyase isoform d
NM_001410812.1	NP_001397741.1	adenylosuccinate lyase isoform e
NM_001410814.1	NP_001397743.1	adenylosuccinate lyase isoform f
NM_001410816.1	NP_001397745.1	adenylosuccinate lyase isoform g

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity	IDA IDA: Inferred from direct assay	27590927	GOA
NOT enables N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IDA IDA: Inferred from direct assay	10888601	GOA
enables N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IDA IDA: Inferred from direct assay	10888601	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	16973378	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in AMP biosynthetic process	IDA IDA: Inferred from direct assay	11428554	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of protein-containing complex	IDA IDA: Inferred from direct assay	16973378	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

ADSL Protein Structure

Lyase_1

ADSL_C

0
100
200
300
400
498 a.a.

Protein Preferred Names	Protein Names
adenylosuccinate lyase	adenylosuccinase

Recombinant ADSL Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75565	ADSL/Adenylosuccinate Lyase Protein, Human (His)	P30566-1 (M1-L484)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Adenylosuccinase Deficiency	Adenylosuccinate Lyase Deficiency Adsl Deficiency ADSLD Succinylpurinemic Autism Deficiency, Adenylosuccinate Lyase
Histidinemia	Histidine Ammonia-Lyase Deficiency Hal Deficiency Histidase Deficiency His Deficiency Histidinuria Hyperhistidinemia HISTID Histidinuria Renal Tubular Defect
Argininosuccinic Aciduria	Argininosuccinate Lyase Deficiency Asl Deficiency Argininosuccinic Acid Lyase Deficiency Argininosuccinase Deficiency Argininosuccinic Acidemia Arginosuccinase Deficiency Asa Deficiency Argininosuccinicaciduria Asauria Deficiency Of Argininosuccinate Lyase Asld Arginino Succinase Deficiency Argininosuccinate Acidemia Inborn Error Of Urea Synthesis, Arginino Succinic Type Urea Cycle Disorder, Arginino Succinase Type Argininosuccinyl-Coa Lyase Deficiency Asa Argininosuccinatelyase Deficiency ARGINSA Aciduria Argininosuccinic Citrullinemia Argininosuccinic Acidaemia Metabolic Disorder Of Arginosuccinic Acid
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
Lesch-Nyhan Syndrome	Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency LNS Hprt Deficiency Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency X-Linked Hyperuricemia Choreoathetosis Self-Mutilation Syndrome Hprt1 Deficiency Hprt Deficiency, Complete Deficiency Of Imp Pyrophosphorylase Hgprt Deficiency Lesch-Nyhan Disease Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency Hg-Prt Deficiency Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency Lesch - Nyhan Syndrome Hprt1 Disorders Lesch Nyhan Syndrome Complete Hprt Deficiency Complete Lesch Nyhan Disease Complete Hprt Deficiency Deficiency Of Guanine Phosphoribosyltransferase Deficiency Of Hypoxanthine Phosphoribosyltransferase Hypoxanthine Phosphoribosyltransferase Deficiency Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome Juvenile Hyperuricemia Syndrome Lnd Primary Hyperuricemia Syndrome Total Hprt Deficiency Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency X-Linked Primary Hyperuricemia X-Linked Uric Aciduria Enzyme Defect Hprt Complete Deficiency Hprt Deficiency Grade Iv Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
Purine Nucleoside Phosphorylase Deficiency	Purine-Nucleoside Phosphorylase Deficiency Pnp Deficiency Nucleoside Phosphorylase Deficiency Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency Deficiency Of Inosine Phosphorylase Pnpase Deficiency PNPD
Histidine Metabolism Disease	Disturbances Of Histidine Metabolism Disorder Of Histidine Metabolism Disturbance Of Histidine Metabolism
Dihydropyrimidinase Deficiency	Dihydropyrimidinuria Dpys Deficiency Dph Deficiency DPYSD Dihydrouracil Amidohydrolase Deficiency Dihydropyrimidinuria Due To Dpys Deficiency
Gout	Gouty Arthritis Articular Gout Gouty Arthropathy Arthritis, Gouty Arthritis Gouty Idiopathic Gout Idiopathic Gout, Unspecified Site Gouty Bursitis Uratic Arthritis Gout Nos Gouty Gouty Diathesis
Phenylketonuria	Phenylalanine Hydroxylase Deficiency PKU Pah Deficiency Folling Disease Maternal Phenylketonuria Phenylketonurias Oligophrenia Phenylpyruvica Hyperphenylalaninemia, Non-Pku Mild Folling'S Disease Phenylalaninemia Mild Phenylketonuria Mild Pku Variant Pku Variant Phenylketonuria Mpku Deficiency Disease, Phenylalanine Hydroxylase Phenylketonuria, Maternal Phenylalanine Hydroxylase Deficiency Disease Hyperphenylalaninemic Embryopathy Maternal Pku Maternal Hyperphenylalaninemia Phenylketonuric Embryopathy Hyperphenylalaninemia HPA Non-Phenylketonuria Hyperphenylalaninemia NON-PKU HPA Phenylketonuria Maternal Classical Phenylketonuria Hyperphenylalaninaemia Pku - [Phenylketonuria]
Fumarase Deficiency	Fumaric Aciduria FMRD Fumarate Hydratase Deficiency Deficiency, Fumarase
Arts Syndrome	ARTS Mrxsarts Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision Mrxs18 Lethal Ataxia With Deafness And Optic Atrophy Fatal X-Linked Ataxia With Deafness And Loss Of Vision Mental Retardation, X-Linked, Syndromic, Arts Type Mental Retardation, X-Linked, Syndromic 18 Syndromic X-Linked Mental Retardation 18 Syndromic X-Linked Mental Retardation Arts Type Lethal Ataxia-Deafness-Optic Atrophy X-Linked Fatal Ataxia With Deafness And Loss Of Vision Ataxia-Deafness-Optic Atrophy, Lethal Lethal Ataxia With Hearing Loss And Optic Atrophy Art
Purine-Pyrimidine Metabolic Disorder	Inborn Errors Of Purine-Pyrimidine Metabolism Disorder Of Purine Or Pyrimidine Metabolism
Dihydropyrimidine Dehydrogenase Deficiency	Dpd Deficiency Familial Pyrimidinemia Hereditary Thymine-Uraciluria Dihydropyrimidinuria Dpyd Deficiency Thymine-Uraciluria, Hereditary Pyrimidinemia, Familial 5-Fluorouracil Toxicity Dihydrouracil Dehydrogenase Deficiency Familial Pyrimidinaemia Thymine-Uracilurea Familial Pyrimidemia Pyrimidinemia Familial DPYDD
Molybdenum Cofactor Deficiency, Complementation Group A	MOCODA Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A Molybdenum Cofactor Deficiency A Molybdenum Cofactor Deficiency Type A Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A Mocod Type A Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of Molybdenum Cofactor Deficiency Complementation Group A Molybdenum Cofactor Deficiency, Type A Deficiency, Molybdenum Cofactor, Complementation Group A
Homocystinuria	Cystathionine Beta Synthase Deficiency Homocysteinemia Cbs Deficiency Cystathionine Synthase Deficiency Cystathionine Beta-Synthase Deficiency Disease
Complex Partial Epilepsy	Epilepsy, Complex Partial Complex Partial Epileptic Seizure Epilepsy, Psychomotor Psychomotor Epilepsy
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Adenine Phosphoribosyltransferase Deficiency	Aprt Deficiency 2,8-Dihydroxyadenine Urolithiasis APRTD 2,8-Dihydroxyadeninuria Dihydroxyadeninuria Urolithiasis, 2,8-Dihydroxyadenine Urolithiasis, Dha Nephrolithiasis, Dha Dha Crystalline Nephropathy Nephrolithiasis Dha Urolithiasis Dha
Cerebral Creatine Deficiency Syndrome	Deficiency, Cerebral Creatine, Syndrome
Gamma-Amino Butyric Acid Metabolism Disorder	Disorder Of Gamma-Aminobutyric Acid Metabolism Disorder Of Gaba Metabolism Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism
Adenosine Deaminase Deficiency	Ada Deficiency Ada-Scid Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency Adenosine Deaminase Deficient Severe Combined Immunodeficiency Scid Due To Ada Deficiency Severe Combined Immunodeficiency Due To Ada Deficiency Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency Ada Scid Due To Adenosine Deaminase Deficiency
Succinic Semialdehyde Dehydrogenase Deficiency	4-Hydroxybutyric Aciduria Ssadh Deficiency Gamma-Hydroxybutyric Aciduria Gaba Metabolic Defect SSADHD Ssadh Succinate-Semialdehyde Dehydrogenase Deficiency Gamma-Hydroxybutyricaciduria 4-Hydroxybutyricaciduria Gamma-Hydroxybutyric Acidemia Succinate Semialdehyde Dehydrogenase Deficiency
Molybdenum Cofactor Deficiency	Combined Molybdoflavoprotein Enzyme Deficiency Mocod Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency Deficiency Of Molybdenum Cofactor Deficiency, Molybdenum Cofactor
Glutamate Formiminotransferase Deficiency	Formiminoglutamic Aciduria Formiminotransferase Deficiency FIGLU-URIA Arakawa Syndrome 1 Formiminoglutamic Acidemia Formiminotransferase Cyclodeaminase Deficiency Formiminotransferase Deficiency Syndrome Ftcd Deficiency Formiminoglutamicaciduria Figluria
L-2-Hydroxyglutaric Aciduria	L-2-Hydroxyglutaric Acidemia L2HGA L-2-Hga Aciduria, L-2-Hydroxyglutaric Combined D-2- And L-2-Hydroxyglutaric Aciduria
Trombiculiasis
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Ornithine Carbamoyltransferase Deficiency Ornithine Transcarbamylase Deficiency Otc Deficiency Ornithine Carbamoyltransferase Deficiency Disease OTCD Deficiency Of Citrulline Phosphorylase Oct Deficiency Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency Deficiency, Ornithine Carbamoyltransferase
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	CMTX5 Rosenberg-Chutorian Syndrome Charcot-Marie-Tooth Disease X-Linked Recessive 5 Optic Atrophy, Polyneuropathy, And Deafness Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5 Cmt5x X-Linked Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5 Optic Atrophy Polyneuropathy Deafness Optic Atrophy With Polyneuropathy And Deafness Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5
Pyrimidine Metabolic Disorder	Disorder Of Pyrimidine Metabolism Pyrimidine Metabolism Disorder
Urea Cycle Disorder	Urea Cycle Disorders Urea Cycle Disorders, Inborn Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Disorder Of Urea Cycle Metabolism Urea Cycle Defect Ucd Disorder Of The Urea Cycle Metabolism Disorder Of Urea Cycle Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Ammonia Metabolic Disorder
Orotic Aciduria	Hereditary Orotic Aciduria Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency Uridine Monophosphate Synthase Deficiency Umps Deficiency Uridine Monophosphate Synthetase Deficiency Orotic Aciduria I Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency Oprt And Odc Deficiency Ump Synthase Deficiency Orotic Aciduria Ii Oroticaciduria 1 Orotic Aciduria Hereditary Orotic Aciduria Type 1 Hereditary Orotic Aciduria Without Megaloblastic Anemia Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency Ump Synthtase Deficiency Umps Orotidylic Decarboxylase Deficiency Orotic Aciduria 1 ORAC1 Aciduria, Orotic Hereditary Orotic Aciduria, Type 1 Orotic Aciduria Nos Orotaciduric Anaemia Orotic Aciduria Anaemia Orotic Aciduria Megaloblastic Anaemia
2-Hydroxyglutaric Aciduria	2-Hga 2-Hydroxyglutaric Acidemia 2-Hydroxyglutaricaciduria Combined D-2- And L-2-Hydroxyglutaric Aciduria
Biotinidase Deficiency	Late-Onset Multiple Carboxylase Deficiency BTD DEFICIENCY Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency, Juvenile-Onset Juvenile-Onset Multiple Carboxylase Deficiency Biotin Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Deficiency Of Biotinidase Biot Carboxylase Deficiency, Multiple, Late-Onset Late-Onset Mcd Mcd Juvenile Form Biotin Deficiency Disease
Holocarboxylase Synthetase Deficiency	HLCS DEFICIENCY Early-Onset Multiple Carboxylase Deficiency Biotin- Ligase Deficiency Neonatal Multiple Carboxylase Deficiency Multiple Carboxylase Deficiency, Neonatal Form Multiple Carboxylase Deficiency, Early Onset Multiple Carboxylase Deficiency - Neonatal Onset Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Early-Onset Combined Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Biotin-Responsive Mcd Biotin-Responsive Multiple Carboxylase Deficiency Early-Onset Mcd Mcd Neonatal Form
Alkaptonuria	Homogentisic Acid Oxidase Deficiency Alcaptonuria AKU Deficiency Of Homogentisicase Homogentisate 1,2-Dioxygenase Deficiency Alkaptonuric Ochronosis Homogentisic Acidura Ochronosis, Hereditary Hereditary Ochronosis Ochronosis Homogentisicaciduria Deficiency Of Homogentisate Oxygenase
Glutathionuria	Gamma-Glutamyltransferase Deficiency Ggt Deficiency Gtg Deficiency Gamma-Glutamyltranspeptidase Deficiency Glutathioninuria Gamma-Glutamyl Transpeptidase Deficiency Gamma-Glutamyl Transferase Deficiency Ggt1 Deficiency GLUTH
Relapsing Fever	Febris Recurrens Novy Febris Recurrens Novy Relapsing Fever
Cerebral Creatine Deficiency Syndrome 2	Guanidinoacetate Methyltransferase Deficiency Gamt Deficiency Creatine Deficiency Syndrome Due To Gamt Deficiency Deficiency Of Guanidinoacetate Methyltransferase CCDS2 Guanidinoacetate Methyltransferase Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 2 Language Development Disorders
Cohen Syndrome	Pepper Syndrome COH1 Hypotonia, Obesity, And Prominent Incisors Coh Chs1, Formerly Norio Syndrome Obesity-Hypotonia Syndrome Prominent Incisors-Obesity-Hypotonia Syndrome Chs1 Hypotonia-Obesity-Prominent Incisors Stage 4s Neuroblastoma
Dystonia 16	DYT16 Dyt-Prkra Dystonia-16 Young-Onset Dystonia- Early-Onset Dystonia Parkinsonism Dystonia, Type 16
Christianson Syndrome	X-Linked Angelman-Like Syndrome X-Linked Intellectual Disability, South African Type X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome Mental Retardation, X-Linked Syndromic, Christianson Type Mrxsch Angelman-Like Syndrome X-Linked Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome Intellectual Disability X-Linked Syndromic Christianson Type Mrxs Christianson X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy Angelman-Like Syndrome, X-Linked Intellectual Deficit, X-Linked, South African Type Mental Retardation X-Linked, South African Type Mental Retardation, X-Linked, Syndromic, Christianson Type
3-Methylcrotonyl-Coa Carboxylase Deficiency	3-Methylcrotonylglycinuria Mcc Deficiency Methylcrotonyl-Coa Carboxylase Deficiency Bmcc Deficiency 3-Mcc Deficiency 3mcc Mccd 3mcc Deficiency Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 3-Mcc 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Deficiency Of Methylcrotonoyl-Coa Carboxylase 3-Methyl Crotonyl-Coa Carboxylase Deficiency 3-Methylcrotonyl Coa Carboxylase 1 Deficiency
Argininemia	Hyperargininemia Arginase Deficiency Arg1 Deficiency Arginase-1 Deficiency Deficiency Of Canavanase Arginase Deficiency Disease ARGIN
Cerebral Creatine Deficiency Syndrome 1	Creatine Transporter Deficiency Creatine Transporter Defect Slc6a8 Deficiency X-Linked Creatine Deficiency Syndrome CCDS1 Creatine Deficiency Syndrome, X-Linked X-Linked Creatine Deficiency Creatine Deficiency, X-Linked X-Linked Creatine Transporter Deficiency Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia Mental Retardation, X-Linked, With Creatine Transport Deficiency Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia Intellectual Disability, X-Linked, With Creatine Transport Deficiency Slc6a8-Related Creatine Transporter Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 1
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Maple Syrup Urine Disease	MSUD Bckd Deficiency Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Type Ii Branched Chain Ketoaciduria Classic Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Type Ia Ketoacidaemia Bckdh Deficiency Branched-Chain 2-Ketoacid Dehydrogenase Deficiency Thiamine-Responsive Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1a Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 2 Maple Syrup Urine Disease, Type Ib Dihydrolipoamide Dehydrogenase Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Maple Syrup Disease Ketoacidemia Classic Bckd Deficiency Classic Msud Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Classic Branched-Chain Ketoaciduria Thiamine-Responsive Bckd Deficiency Thiamine-Responsive Msud Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Intermittent Bckd Deficiency Intermittent Msud Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Maple Syrup Urine Disease 1a MSUD1A Maple Syrup Urine Disease Type Ia Msud Type Ia Maple Syrup Urine Disease 1b MSUD1B Maple Syrup Urine Disease Type Ib Msud Type Ib Maple Syrup Urine Disease 2 MSUD2 Maple Syrup Urine Disease Type Ii Msud Type Ii Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency Ketonemia Maple Syrup Urine Disease, Type 1b Ketoacid Decarboxylase Deficiency Oxoacid Decarboxylase Deficiency Branched Chain Ketoacid Dehydrogenase Deficiency Msud - [Maple-Syrup-Urine Disease] Ketoaminoacidaemia Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] Maple-Syrup-Urine Disorder Maple-Syrup-Urine Syndrome
Smith-Lemli-Opitz Syndrome	SLOS Rsh Syndrome 7-Dehydrocholesterol Reductase Deficiency Slo Syndrome Rutledge Lethal Multiple Congenital Anomaly Syndrome Lethal Acrodysgenital Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Smith-Opitz-Inborn Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung Smith Lemli Opitz Syndrome Smith-Lemli-Opitz Syndrome, Type Ii
Mowat-Wilson Syndrome	MOWS Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease Hirschsprung Disease-Mental Retardation Syndrome Mowat-Wilson Syndrome Due To Monosomy 2q22 Hirschsprung Disease Mental Retardation Syndrome Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease Hirschsprung Disease - Intellectual Disability Syndrome Hirschsprung Disease Intellectual Disability Syndrome Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease Mws Hirschsprung Disease-Intellectual Disability Syndrome Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22) Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22 Mowat-Wilson Syndrome Due To 2q22 Microdeletion Mowat-Wilson Syndrome Due To Del(2)Q(22) Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
Propionic Acidemia	Ketotic Hyperglycinemia Propionyl-Coa Carboxylase Deficiency Pcc Deficiency Propionicacidemia Glycinemia, Ketotic Hyperglycinemia With Ketoacidosis And Leukopenia Ketotic Glycinemia Propionic Aciduria Prop Acidemia, Propionic PA-1 Ketotic Ii Glycinemia Hyperglycinemia, Ketotic Propionic Acidemia Type I Propionic Acidemia Type Ii PA-2 Propionicaciduria
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-109056	Elsulfavirine	Inhibitor	99.90%	Unkown

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-109056A	Elsulfavirine sodium	Inhibitor	/	Unkown
HY-RS00418	ADSL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18123	Adsl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24597	Adsl Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ADSL	VGNC	VGNC:69732
Felis catus	ADSL	VGNC	VGNC:59660
Rattus norvegicus	ADSL	RGD	RGD:1307617
Bos taurus	ADSL	VGNC	VGNC:58439
Mus musculus	ADSL	MGD	MGI:103202
Others	ADSL	NCBI