FIG4 - FIG4 phosphoinositide 5-phosphatase Gene

Also Known as YVS; BTOP; SAC3; ALS11; CMT4J; KIAA0274; dJ249I4.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9896

About FIG4

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:109,691,296-109,825,426 (from NCBI)

This gene has 63 transcripts (splice variants), 205 orthologues, 13 paralogues and is associated with 9 phenotypes. Ubiquitous expression in brain (RPKM 6.2), lung (RPKM 4.8) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 Amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide Phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin Cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]

FIG4 Products (1)

mRNA	Protein	Name
NM_014845.6	NP_055660.1	polyphosphoinositide phosphatase

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17556371	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endosome membrane	IDA IDA: Inferred from direct assay	17556371	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

FIG4 Protein Structure

Syja_N

0
200
400
600
800
907 a.a.

Protein Preferred Names	Protein Names
polyphosphoinositide phosphatase	FIG4 homolog, SAC domain containing lipid phosphatase

FIG4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FIG4	Q92562	VAC14	Homo sapiens	Q08AM6	Anti Tag CoIP	33961781
Intra	FIG4	Q92562	VAC14	Homo sapiens	Q08AM6	Y2H Array	32296183
Intra	FIG4	Q92562	VAC14	Homo sapiens	Q08AM6	Y2H Prey Pooling	32296183
Intra	FIG4	Q92562	PIKFYVE	Homo sapiens	Q9Y2I7	Anti Tag CoIP	33961781
Intra	FIG4	Q92562	GORASP2	Homo sapiens	Q9H8Y8	Y2H Prey Pooling	32296183
Intra	FIG4	Q92562	GORASP2	Homo sapiens	Q9H8Y8	Validated Y2H	32296183
Intra	FIG4	Q92562	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

FIG4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82771	FIG4 Antibody (YA2516)	WB, IP	Human
HY-P82771A	FIG4 Antibody (YA2516)(PBS only)	WB, IP	Human

Related Diseases

Diseases	Alias
Polymicrogyria, Bilateral Temporooccipital	Bilateral Parasagittal Parieto-Occipital Polymicrogyria BTOP Bilateral Temporooccipital Polymicrogyria Polymicrogyria
Charcot-Marie-Tooth Disease, Type 4j	Charcot-Marie-Tooth Disease Type 4j CMT4J Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j Charcot-Marie-Tooth Disease 4j
Yunis-Varon Syndrome	Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia Yunis Varon Syndrome YVS Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia Yunis-Varón Syndrome
Amyotrophic Lateral Sclerosis 11	Amyotrophic Lateral Sclerosis Type 11 ALS11 Sclerosis, Lateral, Amyotrophic, Type Type 11
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Penis Agenesis	Micropenis Agenesis Of The Penis Penis Agenesia
Tremor	Medicament-Induced Tremor Medication-Induced Postural Tremor
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Polymicrogyria	Pmg
Cleidocranial Dysplasia	Cleidocranial Dysostosis CLCD Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly CCD Marie-Sainton Disease Dysplasia Cleidocranial Dento-Osseous Dysplasia Marie-Sainton Syndrome Dysplasia, Cleidocranial
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Lateral Sclerosis	Primary Lateral Sclerosis Adult-Onset Primary Lateral Sclerosis Adult-Onset Pls Motor Neuron Disease Pls Pls - [Primary Lateral Sclerosis] Lateral Spinal Sclerosis Lateral Complete Paralysis Lateral Incomplete Paralysis Lateral Paralysis
Charcot-Marie-Tooth Disease, Type 4b1	Charcot-Marie-Tooth Disease Type 4b1 CMT4B1 Cmt4b Charcot-Marie-Tooth Neuropathy Type 4b1 Charcot-Marie-Tooth Disease Type 4b Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1 Charcot-Marie-Tooth Neuropathy, Type 4b1 Charcot-Marie-Tooth Disease, Type 4b Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1 Charcot-Marie-Tooth Disease 4b1 Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1 Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1
Charcot-Marie-Tooth Disease And Deafness	Charcot-Marie-Tooth Disease Type 1e CMT1E Charcot-Marie-Tooth Disease Type 1 Hereditary Motor And Sensory Neuropathy Type 1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Charcot-Marie-Tooth Disease, Type I Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease Demyelinating Type 1e Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease Cmt1 Charcot-Marie-Tooth Neuropathy Type 1 Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness Charcot-Marie-Tooth Disease-Deafness Charcot-Marie-Tooth Type 1 Hmsn1 Hereditary Motor And Sensory Neuropathy 1 Cmt 1e Charcot Marie Tooth Disease Type 1e Charcot-Marie-Tooth Disease-Deafness Syndrome Charcot-Marie-Tooth Disease-Hearing Loss Syndrome Charcot-Marie-Tooth Disease 1e Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant Charcot-Marie-Tooth Neuropathy Type 1e Charcot-Marie-Tooth Disease, Type Ie Hereditary Motor And Sensory Neuropathy Type I
Charcot-Marie-Tooth Disease, Type 4h	Charcot-Marie-Tooth Disease Type 4h CMT4H Charcot-Marie-Tooth Neuropathy Type 4h Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h Charcot-Marie-Tooth Neuropathy, Type 4h Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h Charcot-Marie-Tooth Disease 4h Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Amyotrophic Lateral Sclerosis Type 12	Amyotrophic Lateral Sclerosis 12 Als12 Sclerosis, Lateral, Amyotrophic, Type Type 12
Charcot-Marie-Tooth Disease, Type 4b3	Charcot-Marie-Tooth Disease Type 4b3 CMT4B3 Charcot-Marie-Tooth Disease With Focally Folded Myelin Charcot-Marie-Tooth Disease 4b3 Charcot-Marie-Tooth Neuropathy Type 4b3
Charcot-Marie-Tooth Disease, Type 4b2	Charcot-Marie-Tooth Disease Type 4b2 CMT4B2 Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2 Charcot-Marie-Tooth Neuropathy, Type 4b2 Charcot-Marie-Tooth Neuropathy Type 4b2 Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2 Cmt 4b2 Charcot Marie Tooth Disease Type 4b2 Charcot-Marie-Tooth Disease 4b2 Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2 Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	SRTD10 Short-Rib Thoracic Dysplasia 10 Without Polydactyly Short Rib-Polydactyly Syndrome
Developmental And Epileptic Encephalopathy 53	DEE53 Epileptic Encephalopathy, Early Infantile, 53 Eiee53 Developmental And Epileptic Encephalopathy, 53 Early Infantile Epileptic Encephalopathy 53
Amyotrophic Lateral Sclerosis 18	Amyotrophic Lateral Sclerosis Type 18 ALS18 Sclerosis, Lateral, Amyotrophic, Type 18
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic Lateral Sclerosis Type 10 ALS10 Amyotrophic Lateral Sclerosis 10, With Or Without Ftd Frontotemporal Lobar Degeneration, Tardbp-Related Amyotrophic Lateral Sclerosis 10 Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia Tardbp-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia And With Tdp43 Inclusions Sclerosis, Lateral, Amyotrophic, Type Type 10
Charcot-Marie-Tooth Disease, Demyelinating, Type 1c	Charcot-Marie-Tooth Disease Type 1c CMT1C Hmsn1c Hmsn Ic Charcot-Marie-Tooth Disease, Type 1c Charcot-Marie-Tooth Neuropathy Type 1c Cmt, Slow Nerve Conduction Type C Charcot-Marie-Tooth Neuropathy, Type 1c Neuropathy, Hereditary Motor And Sensory, Type Ic Cmt Slow Nerve Conduction Type C Neuropathy Hereditary Motor And Sensory Type 1c Charcot-Marie-Tooth Disease 1c Charcot-Marie-Tooth Disease Demyelinating Type 1c Hereditary Motor And Sensory Neuropathy Ic Charcot-Marie-Tooth Disease, Type Ic
Amyotrophic Lateral Sclerosis Type 14	Als14 Amyotrophic Lateral Sclerosis 14 Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 14 With Or Without Frontotemporal Dementia
Amyotrophic Lateral Sclerosis Type 6	Amyotrophic Lateral Sclerosis 6, Autosomal Recessive Als6 Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia Autosomal Recessive Amyotrophic Lateral Sclerosis 6 Sclerosis, Lateral, Amyotrophic, Type Type 6 Amyotrophic Lateral Sclerosis 6
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f	Charcot-Marie-Tooth Disease Type 4f CMT4F Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease 4f Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f Charcot-Marie-Tooth Neuropathy Type 4f Dejerine-Sottas Disease
Charcot-Marie-Tooth Disease, Type 4c	Charcot-Marie-Tooth Disease Type 4c CMT4C Charcot-Marie-Tooth Neuropathy Type 4c Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c Charcot-Marie-Tooth Neuropathy, Type 4c Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c Charcot-Marie-Tooth Disease 4c Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c
Amyotrophic Lateral Sclerosis 8	Amyotrophic Lateral Sclerosis Type 8 ALS8 Sclerosis, Lateral, Amyotrophic, Type Type 8
Syndromic X-Linked Intellectual Disability Hedera Type	Mental Retardation, X-Linked, Syndromic, Hedera Type Mrxe Mrxsh
Amyotrophic Lateral Sclerosis 20	Amyotrophic Lateral Sclerosis Type 20 ALS20 Sclerosis, Lateral, Amyotrophic, Type 20
Amyotrophic Lateral Sclerosis Type 15	Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia Als15 Amyotrophic Lateral Sclerosis 15
Charcot-Marie-Tooth Disease, Axonal, Type 2b	Charcot-Marie-Tooth Disease Type 2b CMT2B Hmsn Iib Hmsn2b Charcot-Marie-Tooth Disease, Type 2b Hereditary Motor And Sensory Neuropathy Iib Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b Charcot-Marie-Tooth Neuropathy Type 2b Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b Charcot-Marie-Tooth Neuropathy, Type 2b Hereditary Motor And Sensory Nueropathy Iib Cmt 2b Charcot Marie Tooth Disease Type 2b Charcot-Marie-Tooth Disease, Neuronal, Type 2b Hereditary Motor And Sensory Neuropathy 2 B Peripheral Sensory Neuropathy, Autosomal Dominant Charcot-Marie-Tooth Disease 2b Charcot-Marie-Tooth Disease Axonal Type 2b Charcot-Marie-Tooth Disease Neuronal Type 2b Peripheral Sensory Neuropathy Autosomal Dominant Psn
Parkinson Disease 20, Early-Onset	Early-Onset Parkinson Disease 20 PARK20 Parkinson'S Disease 20 Early-Onset Parkinson'S Disease 20 Parkinson Disease, Type 20, Early-Onset
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
Amyotrophic Lateral Sclerosis 21	Amyotrophic Lateral Sclerosis Type 21 ALS21 Multisystem Proteinopathy 5 Msp5 Distal Myopathy With Vocal Cord Weakness Vcpdm Myopathy, Distal, 2, Formerly Mpd2, Formerly Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy, Formerly Vcpdm, Formerly Vocal Cord And Pharyngeal Distal Myopathy Matr3-Related Distal Myopathy Distal Myopathy 2 Mpd2 Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy Sclerosis, Lateral, Amyotrophic, Type 21 Myopathy, Distal 2
Neuropathy, Hereditary Motor And Sensory, Russe Type	Charcot-Marie-Tooth Disease Type 4g HMSNR Cmt4g Hereditary Motor And Sensory Neuropathy, Russe Type Charcot-Marie-Tooth Disease, Type 4g Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4g Charcot-Marie-Tooth Neuropathy Type 4g Charcot-Marie-Tooth Neuropathy, Type 4g Autosomal Recessive Charcot-Marie-Tooth Disease Type 4g Hereditary Motor And Sensory Neuropathy Russe Type Charcot-Marie-Tooth Disease Autosomal Recessive Type 4g
Striatonigral Degeneration
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic Lateral Sclerosis Type 16 ALS16 Amyotrophic Lateral Sclerosis 16 Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile
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
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	CMTX1 Cmtx Charcot-Marie-Tooth Disease X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 X-Linked Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked Cmt1x X-Linked Charcot-Marie-Tooth Disease Type 1 X-Linked Hereditary Motor And Sensory Neuropathy Hereditary Motor And Sensory Neuropathy, X-Linked Hmsn, X-Linked Charcot-Marie-Tooth Neuropathy, X-Linked, 1 Cmt2, Formerly Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy X-Linked 1 Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked Hereditary Motor And Sensory Neuropathy X-Linked Hmsn X-Linked Charcot-Marie-Tooth, X-Linked Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1 Charcot-Marie-Tooth Disease, X-Linked, 1
Neuropathy, Hereditary, With Liability To Pressure Palsies	Tomaculous Neuropathy Hereditary Neuropathy With Liability To Pressure Palsies HNPP Polyneuropathy, Familial Recurrent Neuropathy, Recurrent, With Pressure Palsies Current Pressure-Sensitive Neuropathy Familial Recurrent Polyneuropathy Heterozygous Microdeletion 17p11.2p12 Potato-Grubbing Palsy Tulip-Bulb Digger'S Palsy Compression Neuropathy Entrapment Neuropathy Familial Pressure Sensitive Neuropathy Hereditary Motor And Sensory Neuropathy Hereditary Pressure Sensitive Neuropathy Inherited Tendency To Pressure Palsies Hereditary Liability To Pressure Palsies Nerve Compression Syndrome Entrapment Neuropathies Hereditary Motor And Sensory Neuropathies
Corneal Dystrophy, Fleck	Fleck Corneal Dystrophy Fcd CFD Corneal Fleck Dystrophy Francois-Neetens Speckled Corneal Dystrophy Corneal Dystrophy, Francois-Neetens Speckled Or Flecked Corneal Dystrophy Francois-Neetens Speckled Or Flecked Dystrophy, Corneal, Fleck
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b	Charcot-Marie-Tooth Disease Type 1b CMT1B Hereditary Motor And Sensory Neuropathy Ib Hmsn Ib Hmsn1b Peroneal Muscular Atrophy Charcot-Marie-Tooth Disease, Type 1b Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy Charcot-Marie-Tooth Neuropathy Type 1b Charcot-Marie-Tooth Disease, Type Ib Hereditary Motor And Sensory Neuropathy I Hmsn I Hmsn1 Charcot-Marie-Tooth Neuropathy, Type 1b Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b Charcot-Marie-Tooth Disease 1b Charcot-Marie-Tooth Disease Demyelinating Type 1b Hmsn Type I Hereditary Motor And Sensory Neuropathy Type I Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a	Charcot-Marie-Tooth Disease Type 1a CMT1A Charcot-Marie-Tooth Disease, Type Ia Hmsn1a Hereditary Motor And Sensory Neuropathy Ia Hmsn Ia Charcot-Marie-Tooth Neuropathy, Type 1a Charcot-Marie-Tooth Disease, Type 1a Charcot-Marie-Tooth Neuropathy Type 1a Hereditary Motor And Sensory Neuropathy 1a Microduplication 17p12 Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a Cmt 1a Charcot Marie Tooth Disease Type 1a Hmsn 1a Charcot-Marie-Tooth Disease 1a Charcot-Marie-Tooth Disease Demyelinating Type 1a Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy
Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease, Demyelinating, Type 1f	Charcot-Marie-Tooth Disease Type 1f CMT1F Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Neuropathy Type 1f Charcot-Marie-Tooth Neuropathy, Type 1f Charcot-Marie-Tooth Disease Type 2b5 Ar-Cmt2b5 Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5 Seoan Due To Nefl Deficiency Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency Severe Early-Onset Axonal Neuropathy Due To Light Neurofilament Subunit Deficiency Charcot-Marie-Tooth Disease 1f Charcot-Marie-Tooth Disease Demyelinating Type 1f Charcot-Marie-Tooth Disease, Type If
Neuronopathy, Distal Hereditary Motor, Type Viib	HMN7B Hmn Viib Dhmn7b Neuropathy, Distal Hereditary Motor, Type Viib Distal Hereditary Motor Neuronopathy Type 7b Distal Hereditary Motor Neuropathy Type Viib Neuronopathy, Distal Hereditary Motor, Type 7b Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type Viib Lower Motor Neuron Disease, Dynactin Type Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7b Harper-Young Myopathy Neuronopathy, Distal Hereditary Motor, 7b Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis Type Viib Lower Motor Neuron Disease Dynactin Type Plmnd Progressive Lower Motor Neuron Disease Neuropathy, Motor, Distal, Hereditary, Type Viib
Hypertrophic Neuropathy Of Dejerine-Sottas	Dejerine-Sottas Disease Dejerine-Sottas Syndrome Charcot-Marie-Tooth Disease Type 3 DSS Hereditary Motor And Sensory Neuropathy Type Iii Hmsn3 Dejerine-Sottas Neuropathy Hmsn Iii Charcot-Marie-Tooth Disease, Type 3 Cmt3 Dsn Hmsn 3 Hereditary Motor And Sensory Neuropathy Type 3 Hereditary Motor And Sensory Neuropathy 3 Hypertrophic Neuropathy Of Infancy Charcot-Marie-Tooth Disease Demyelinating Type 4f Charcot-Marie-Tooth Disease Type 4f Charcot-Marie-Tooth Neuropathy Type 4f Cmt4f Hereditary Motor And Sensory Neuropathy Iii Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1	Smard1 DSMA1 Sianrf Dhmn6 Spinal Muscular Atrophy With Respiratory Distress 1 HMN6 Severe Infantile Axonal Neuropathy With Respiratory Failure Autosomal Recessive Distal Spinal Muscular Atrophy 1 Diaphragmatic Spinal Muscular Atrophy Spinal Muscular Atrophy With Respiratory Distress Type 1 Neuronopathy, Distal Hereditary Motor, Type Vi Hmn Vi Neuronopathy, Severe Infantile Axonal, With Respiratory Failure Distal Spinal Muscular Atrophy 1 Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress Distal Hereditary Motor Neuropathy Type 6 Distal-Hmn Type 6 Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1 Spinal Muscular Atrophy, Diaphragmatic Distal Hereditary Motor Neuronopathy Type Vi Distal Spinal Muscular Atrophy Type 1 Hmnvi Spinal Muscular Atrophy With Respiratory Distress Autosomal Recessive Distal Spinal Muscular Atrophy Type 1 Neuronopathy, Distal Hereditary Motor, 6 Dhmn Vi Distal Hereditary Motor Neuropathy Type Vi Severe Infantile Axonal Neuronopathy With Respiratory Failure Spinal Muscular Atrophy Distal Autosomal Recessive 1 Atrophy, Muscular, Spinal, Distal, Type 1
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Myopathy, Centronuclear, X-Linked	X-Linked Myotubular Myopathy Xlmtm X-Linked Centronuclear Myopathy Xlcnm CNMX Mtm1 Myotubular Myopathy, X-Linked Mtmx Myotubular Myopathy 1 Centronuclear Myopathy X-Linked Myotubular Myopathy Mtm Cnm Xmtm Myotubular Myopathy Type 1
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	FTDALS1 Frontotemporal Dementia And/Or Motor Neuron Disease Ftdmnd Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia Alsftd Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1 Frontotemporal Dementia With Motor Neuron Disease Ftdals Ftd-Als Ftd-Mnd Frontotemporal Dementia With Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1 Frontotemporal Lobar Degeneration Grn-Related Frontotemporal Dementia
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
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04944	FIG4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-184522	TPA(bi(Tos))-γ-Glu(PEG23)-Gly-Gly-Gly-C2-NH-PNU-159682		/	Unkown
HY-RS22170	Fig4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FIG4	VGNC	VGNC:97438
Bos taurus	FIG4	VGNC	VGNC:29008
Macaca mulatta	FIG4	VGNC	VGNC:72518
Canis familiaris	FIG4	VGNC	VGNC:40879
Rattus norvegicus	FIG4	RGD	RGD:1311375
Mus musculus	FIG4	MGD	MGI:2143585
Others	FIG4	NCBI