APTX - aprataxin Gene

Also Known as AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54840

About APTX

Cytogenetic location: 9p21.1 Genomic coordinates (GRCh38): 9:32,972,616-33,025,120 (from NCBI)

This gene has 56 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 2.7), testis (RPKM 2.3) and 25 other tissues.

Summary

This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]

APTX Products (23)

mRNA	Protein	Name
NM_001195248.2	NP_001182177.2	aprataxin isoform a
NM_001195249.2	NP_001182178.1	aprataxin isoform a
NM_001195250.2	NP_001182179.2	aprataxin isoform h
NM_001195251.2	NP_001182180.1	aprataxin isoform g
NM_001195252.2	NP_001182181.2	aprataxin isoform i
NM_001195254.2	NP_001182183.1	aprataxin isoform h
NM_001368995.1	NP_001355924.1	aprataxin isoform a
NM_001368996.1	NP_001355925.1	aprataxin isoform a
NM_001368997.1	NP_001355926.1	aprataxin isoform a
NM_001368998.1	NP_001355927.1	aprataxin isoform a
NM_001368999.1	NP_001355928.1	aprataxin isoform g
NM_001369000.1	NP_001355929.1	aprataxin isoform h
NM_001369001.1	NP_001355930.1	aprataxin isoform h
NM_001369002.1	NP_001355931.1	aprataxin isoform j
NM_001369003.1	NP_001355932.1	aprataxin isoform j
NM_001369004.1	NP_001355933.1	aprataxin isoform j
NM_001369005.1	NP_001355934.1	aprataxin isoform j
NM_001369006.1	NP_001355935.1	aprataxin isoform k
NM_001370669.1	NP_001357598.1	aprataxin isoform j
NM_001370670.1	NP_001357599.1	aprataxin isoform j
NM_001370673.1	NP_001357602.1	aprataxin isoform j
NM_175069.3	NP_778239.2	aprataxin isoform g
NM_175073.3	NP_778243.1	aprataxin isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables DNA 5'-adenosine monophosphate hydrolase activity	IDA IDA: Inferred from direct assay	16547001	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	15044383	GOA
enables damaged DNA binding	IDA IDA: Inferred from direct assay	14755728	GOA
enables double-stranded DNA binding	IDA IDA: Inferred from direct assay	16547001	GOA
enables double-stranded RNA binding	IDA IDA: Inferred from direct assay	16547001	GOA
enables phosphoglycolate phosphatase activity	IDA IDA: Inferred from direct assay	17519253	GOA
enables phosphoprotein binding	IPI IPI: Inferred from physical interaction	20008512	GOA
enables polynucleotide 3'-phosphatase activity	IDA IDA: Inferred from direct assay	17519253	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14755728	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in regulation of protein stability	IMP IMP: Inferred from mutant phenotype	16777843	GOA
involved in single strand break repair	IDA IDA: Inferred from direct assay	14755728	GOA
involved in single strand break repair	IMP IMP: Inferred from mutant phenotype	15044383	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in chromatin	IDA IDA: Inferred from direct assay	15044383	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	15044383	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	15044383	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

APTX Protein Structure

DcpS_C

0
100
200
300
356 a.a.

Protein Preferred Names	Protein Names
aprataxin	forkhead-associated domain histidine triad-like protein

APTX Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	APTX	Q7Z2E3	PARP1	Homo sapiens	P09874	Anti Bait CoIP	15044383
Intra	APTX	Q7Z2E3	PARP1	Homo sapiens	P09874	Pull Down	15044383
Intra	APTX	Q7Z2E3	XRCC4	Homo sapiens	Q13426	Y2H	16439205
Intra	APTX	Q7Z2E3	XRCC4	Homo sapiens	Q13426	CoIP	15380105
Intra	APTX	Q7Z2E3	XRCC4	Homo sapiens	Q13426	Y2H	15380105
Intra	APTX	Q7Z2E3	XRCC4	Homo sapiens	Q13426	Y2H Array	16713569
Intra	APTX	Q7Z2E3	XRCC1	Homo sapiens	P18887	Y2H	16713569
Intra	APTX	Q7Z2E3	XRCC1	Homo sapiens	P18887	Pull Down	15044383
Intra	APTX	Q7Z2E3	XRCC1	Homo sapiens	P18887	Anti Bait CoIP	15044383
Intra	APTX	Q7Z2E3	XRCC1	Homo sapiens	P18887	CoIP	15367657
Intra	APTX	Q7Z2E3	XRCC1	Homo sapiens	P18887	Anti Tag CoIP	15555565
Intra	APTX	Q7Z2E3	XRCC1	Homo sapiens	P18887	Y2H	15555565

Cross: Cross-species interaction Intra: Intraspecies interaction

APTX Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P82393	Aprataxin Antibody (YA2138)	WB, ICC/IF	Human
HY-P82393A	Aprataxin Antibody (YA2138)(PBS only)	WB, ICC/IF	Human

Related Diseases

Diseases	Alias
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Aoa1 Ataxia-Telangiectasia-Like Disorder EAOH Eoca-Ha Ataxia With Oculomotor Apraxia Type 1 Ataxia-Oculomotor Apraxia 1 Ataxia-Oculomotor Apraxia Syndrome AOA Ataxia-Telangiectasia-Like Syndrome Ataxia-Oculomotor Apraxia Type 1 Ataxia With Oculomotor Apraxia Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia Early-Onset Cerebellar Ataxia With Hypoalbuminemia Adult Onset Ataxia With Oculomotor Apraxia Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia Scan2 Scar1 Spinocerebellar Ataxia With Axonal Neuropathy Type 2 Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 Atld Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia Cerebellar Ataxia Early-Onset With Hypoalbuminemia Ataxia-Oculomotor Apraxia Spinocerebellar Ataxia, Autosomal Recessive 1
Apraxia	Apraxias Dyspraxia
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
Oculomotor Apraxia
Analbuminemia	ANALBA Congenital Analbuminemia Hypoalbuminemia
Spinocerebellar Ataxia Type 1 With Axonal Neuropathy	Scan1 Spinocerebellar Ataxia With Axonal Neuropathy Type 1 Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy Scan1, Tdp1-Related Spinocerebellar Ataxia With Axonal Neuropathy Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy Spinocerebellar Ataxia With Axonal Neuropathy Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy
Ataxia-Telangiectasia	Ataxia Telangiectasia Louis-Bar Syndrome AT At1 Ataxia-Telangiectasia Syndrome Ataxia - Telangiectasia Variant Boder-Sedgwick Syndrome Louis Bar Syndrome Cerebello-Oculocutaneous Telangiectasia Immunodeficiency With Ataxia Telangiectasia A-T Ataxia Telangiectasia Syndrome Atm Telangiectasia, Cerebello-Oculocutaneous Ataxia-Telangiectasia Variant
Ataxia-Oculomotor Apraxia 3	Ataxia With Oculomotor Apraxia Type 3 AOA3 Aaxia-Oculomotor Apraxia-3 Ataxia-Oculomotor Apraxia, Type 3
Spinocerebellar Ataxia, Autosomal Recessive 26	SCAR26 Autosomal Recessive Spinocerebellar Ataxia 26 Spinocerebellar Ataxia, Autosomal Recessive, 26
Ataxia With Vitamin E Deficiency	Ataxia With Isolated Vitamin E Deficiency AVED Familial Isolated Vitamin E Deficiency Friedreich-Like Ataxia Familial Isolated Deficiency Of Vitamin E Isolated Vitamin E Deficiency Ataxia, Friedreich-Like, With Selective Vitamin E Deficiency Vitamin E Deficiency, Familial Isolated Ved Friedreich-Like Ataxia With Selective Vitamin E Deficiency Five Friedreich Ataxia Phenotype With Selective Vitamin E Deficiency Vitamin E Familial Isolated, Deficiency Of Ataxia Friedreich-Like With Selective Vitamin E Deficiency
Spastic Ataxia, Charlevoix-Saguenay Type	Charlevoix-Saguenay Spastic Ataxia Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay Arsacs SACS Spax6 Spastic Ataxia Charlevoix-Saguenay Type Spastic Ataxia 6, Autosomal Recessive Autosomal Recessive Spastic Ataxia Type 6 Spastic Ataxia Of Charlevoix-Saguenay Atx/Hsp-Sacs Ataxia, Spastic, Charlevoix-Saguenay Type
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Aoa2 Ataxia With Oculomotor Apraxia Type 2 Scar1 SCAN2 Ataxia-Oculomotor Apraxia 2 Ataxia-Ocular Apraxia 2 Ataxia-Oculomotor Apraxia Type 2 Scan 2 Spinocerebellar Ataxia With Axonal Neuropathy Type 2 Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly Scar1, Formerly Autosomal Recessive Spinocerebellar Ataxia-1 Spinocerebellar Ataxia, Autosomal Recessive, 1 Ataxia-Ocular Apraxia-2 Spinocerebellar Ataxia, Autosomal Recessive 1
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Autosomal Recessive Cerebellar Ataxia	Arca
Coenzyme Q10 Deficiency, Primary, 4	Scar9 Spinocerebellar Ataxia, Autosomal Recessive 9 Autosomal Recessive Ataxia Due To Ubiquinone Deficiency COQ10D4 Arca2 Autosomal Recessive Cerebellar Ataxia Type 2 Primary Coenzyme Q10 Deficiency 4 Autosomal Recessive Ataxia Due To Coenzyme Q10 Deficiency Autosomal Recessive Spinocerebellar Ataxia Type 9 Autosomal Recessive Spinocerebellar Ataxia 9 Spinocerebellar Ataxia Autosomal Recessive 9 Coenzyme Q10 Deficiency, Primary, Type 4 Ataxia, Spinocerebellar, Autosomal Recessive, Type 9
Motor Peripheral Neuropathy	Motor Neuritis Peripheral Motor Neuropathy Hereditary Motor And Sensory Neuropathy Hsmn Hsmn - Hereditary Sensory And Motor Neuropathy Neuropathic Muscular Atrophy Hereditary Sensory And Motor Neuropathy Hereditary Motor And Sensory Neuropathies
Coenzyme Q10 Deficiency Disease	Coenzyme Q10 Deficiency Coq10 Deficiency Primary Coenzyme Q10 Deficiency Coenzyme Q Deficiency Coq Deficiency Primary Coq10 Deficiency Ubiquinone Deficiency Coenzyme Q10 Deficiency, Primary Coq10 Deficiency, Primary
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Spinocerebellar Ataxia 14	Spinocerebellar Ataxia Type 14 SCA14 Ataxia, Spinocerebellar, Type 14
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Hemopneumothorax	Haemopneumothorax
Spinocerebellar Ataxia, Autosomal Recessive 23	SCAR23 Autosomal Recessive Spinocerebellar Ataxia 23 Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency Autosomal Recessive Cerebellar Ataxia - Epilepsy - Intellectual Disability Syndrome Due To Tud Deficiency Spinocerebellar Ataxia Autosomal Recessive Type 23 Spinocerebellar Ataxia, Autosomal Recessive, 23 Ataxia, Spinocerebellar, Autosomal Recessive, Type 23
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Achalasia-Addisonianism-Alacrima Syndrome	Allgrove Syndrome Triple-A Syndrome Achalasia-Addisonianism-Alacrimia Syndrome Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder Triple A Syndrome Aaa Syndrome AAAS Glucocorticoid Deficiency With Achalasia Glucocorticoid Deficiency And Achalasia Addisonian-Achalasia Syndrome Hypoadrenalism With Achalasia Alacrima-Achalasia-Addisonianism Aaa Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima Achalasia Addisonianism Alacrimia Syndrome Achalasia Alacrima Syndrome Addisonian Achalasia Syndrome Achalasia-Addisonian Syndrome Achalasia-Alacrima Syndrome 2a Syndrome 3a Syndrome 4a Syndrome Adrenal Insufficiency-Achalasia-Alacrima Syndrome Double A Syndrome Quaternary A Syndrome Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima Allgrove'S Syndrome Adrenal Gland Hypofunction Adrenal Cortical Hypofunction
Charcot-Marie-Tooth Disease, Axonal, Type 2cc	Charcot-Marie-Tooth Disease Axonal Type 2cc CMT2CC Charcot-Marie-Tooth Neuropathy, Type 2cc Charcot-Marie-Tooth Neuropathy Type 2cc Charcot-Marie-Tooth Disease 2cc
Vestibular Nystagmus	Nystagmus Associated With Disorder Of The Vestibular System
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	MRXSBL Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance Mental Retardation, X-Linked 60, Formerly Mrx60, Formerly Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type Mrx60 Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance
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
Mitochondrial Dna Depletion Syndrome 7	Ohaha Syndrome Infantile Onset Spinocerebellar Ataxia Iosca Infantile-Onset Spinocerebellar Ataxia Spinocerebellar Ataxia 8 MTDPS7 Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome Sca8 Spinocerebellar Ataxia Infantile With Sensory Neuropathy Spinocerebellar Ataxia, Infantile-Onset Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy Spinocerebellar Ataxia 8, Formerly Sca8, Formerly Iosca, Mitochondrial Dna Depletion Syndrome 7 Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form Mtdna Depletion Syndrome, Hepatocerebrorenal Form Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis Pure Spinocerebellar Ataxia Japanese Type Sca4 Pure Japanese Type Spinocerebellar Ataxia Infantile-Onset Mitochondrial Dna Depletion Syndrome , Type 7
Lig4 Syndrome	Dna Ligase Iv Deficiency Ligase 4 Syndrome LIG4S
Immunodeficiency With Hyper-Igm, Type 5	HIGM5 Hyper-Igm Syndrome 5 Immunodeficiency With Hyper Igm Type 5 Hyper-Igm Syndrome Type 5 Hyper-Igm Syndrome Due To Ung Deficiency Hyper-Igm Syndrome Due To Uracil N-Glycosylase Immunodeficiency With Hyper Igm, Type 5 Hyper Igm Syndrome 5 Immunodeficiency With Hyper-Igm 5 Hyper-Igm Immunodeficiency Type 5 Immunodeficiency, With Hyper Igm, Type 5 Hyper-Igm Immunodeficiency Syndrome, Type 5
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic Lateral Sclerosis Type 4 ALS4 Amyotrophic Lateral Sclerosis 4 Dhmn With Upper Motor Neuron Signs Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs Neuronopathy, Distal Hereditary Motor, With Pyramidal Features Als 4 Distal Hereditary Motor Neuropathy With Pyramidal Features Amyotrophic Lateral Sclerosis Juvenile 4 Neuronopathy Distal Hereditary Motor With Pyramidal Features Sclerosis, Lateral, Amyotrophic, Type Type 4
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Marinesco-Sjogren Syndrome	Marinesco-Sjögren Syndrome MSS Marinesco-Garland Syndrome Garland-Moorhouse Syndrome Hereditary Oligophrenic Cerebello-Lental Degeneration Oligophrenic Cerebellolenticular Degeneration Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism Marinesco-Sjogren Syndrome-Myopathy Marinesco-Sjogren-Garland Syndrome Marinesco-Sjoegren Syndrome
Choreatic Disease	Chorea Hereditary Chorea
Cardiofaciocutaneous Syndrome 1	Cardiofaciocutaneous Syndrome Cfc Syndrome Cardio-Facio-Cutaneous Syndrome CFC1 Cfcs Cardio-Facial-Cutaneous Syndrome Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure Cardiofaciocutaneous Syndrome, Type 1
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Nijmegen Breakage Syndrome	Berlin Breakage Syndrome NBS Microcephaly, Normal Intelligence And Immunodeficiency Ataxia-Telangiectasia Variant Ataxia-Telangiectasia Variant V1 Seemanova Syndrome Ii Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome Seemanova Syndrome Type 2 At-V1 Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence Immunodeficiency, Microcephaly, And Chromosomal Instability Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome Microcephaly Immunodeficiency Lymphoreticuloma Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence Seemanova Syndrome 2 Ataxia-Telangiectasia Variant 1 Seemanova Syndrome At V1 Ataxia-Telangiectasia, Variant 1 Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome V-At Ataxia Telangiectasia Variant V1
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	SANDO Mitochondrial Recessive Ataxia Syndrome Spinocerebellar Ataxia With Epilepsy Epilepsy, Progressive Myoclonic 5 Epm5 Miras SCAE Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Progressive Myoclonic Epilepsy Type 5 Pme Type 5 Progressive Myoclonus Epilepsy Type 5 Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome Recessive Mitochondrial Ataxia Syndrome Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome Mscae Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy Epilepsy, Progressive Myoclonic, 5 Ataxia Neuropathy Spectrum
Orofaciodigital Syndrome Vi	OFD6 Varadi-Papp Syndrome Varadi Syndrome Joubert Syndrome With Orofaciodigital Defect Orofaciodigital Syndrome Type 6 Orofaciodigital Syndrome 6 Oral-Facial-Digital Syndrome, Type Vi Ofds Vi Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation Polydactyly Cleft Lip Palate Psychomotor Retardation Oral-Facial-Digital Syndrome Type 6 Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome Polydactyly - Cleft Lip/Palate - Psychomotor Retardation Váradi Syndrome Váradi-Papp Syndrome Joubert Syndrome With Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndrome 6 Joubert-Orofaciodigital Syndrome Orofaciodigital Syndrome, Type Vi
Multiple Acyl-Coa Dehydrogenase Deficiency	MADD Ethylmalonic-Adipicaciduria Ema Glutaric Acidemia Iia Glutaric Acidemia Iib Ga Ii Glutaric Acidemia Iic Glutaric Acidemia Type 2 Glutaric Acidemia Ii Glutaric Aciduria Ii Electron Transfer Flavoprotein Deficiency Glutaric Aciduria Type 2 Mad Deficiency Glutaric Acidemia Type Ii Glutaric Aciduria 2 Etfa Deficiency Etfb Deficiency Etfdh Deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency Ga2 Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency Electron Transfer Flavoprotein Dehydrogenase Deficiency Ga 2 Glutaric Acidemia 2 Glutaric Acidemia, Type 2 Glutaric Aciduria, Type 2 Mad Multiple Fad Dehydrogenase Deficiency Ethylmalonic Adipic Aciduria Glutaricaciduria Ii Glutaric Aciduria 2a GA2A Gaiia Glutaricaciduria Iia Glutaric Aciduria 2b GA2B Gaiib Glutaricaciduria Iib Glutaric Aciduria 2c GA2C Gaiic Glutaricaciduria Iic Glutaricaciduria, Type Iia Glutaric Acidemia Type 2a Glutaric Acidemia Type 2c Glutaric Aciduria Iia Glutaric Aciduria Iib Glutaric Aciduria Iic
Spastic Ataxia	Spax Ataxia, Spastic
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-135782A	iso-ADP ribose TEA		99.97%	Unkown
HY-135782	iso-ADP ribose		/	Unkown
HY-RS00870	APTX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	APTX	VGNC	VGNC:59858
Macaca mulatta	APTX	VGNC	VGNC:69838
Bos taurus	APTX	VGNC	VGNC:26043
Canis familiaris	APTX	VGNC	VGNC:38015
Mus musculus	APTX	MGD	MGI:1913658
Rattus norvegicus	APTX	RGD	RGD:628740
Others	APTX	NCBI