DYNC1H1 - dynein cytoplasmic 1 heavy chain 1 Gene

Also Known as p22; DHC1; DNCL; DYHC; HL-3; CMT2O; DHC1a; DNCH1; DNECL; Dnchc1; SMALED1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1778

About DYNC1H1

Cytogenetic location: 14q32.31 Genomic coordinates (GRCh38): 14:101,964,573-102,056,443 (from NCBI)

This gene has 64 transcripts (splice variants), 228 orthologues, 15 paralogues and is associated with 8 phenotypes. Ubiquitous expression in brain (RPKM 38.0), skin (RPKM 23.8) and 25 other tissues.

Summary

Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]

DYNC1H1 Products (1)

mRNA	Protein	Name
NM_001376.5	NP_001367.2	cytoplasmic dynein 1 heavy chain 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables dynein light intermediate chain binding	IPI IPI: Inferred from physical interaction	25272277	GOA
contributes to minus-end-directed microtubule motor activity	IDA IDA: Inferred from direct assay	21723285	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15161933	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in establishment of spindle localization	IMP IMP: Inferred from mutant phenotype	23027904	GOA
involved in positive regulation of intracellular transport	IMP IMP: Inferred from mutant phenotype	27462074	GOA
involved in positive regulation of spindle assembly	IMP IMP: Inferred from mutant phenotype	27462074	GOA
involved in regulation of metaphase plate congression	IMP IMP: Inferred from mutant phenotype	27462074	GOA
involved in regulation of mitotic spindle organization	IMP IMP: Inferred from mutant phenotype	23027904	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
part of cytoplasmic dynein complex	IDA IDA: Inferred from direct assay	21723285	GOA
part of dynein complex	IPI IPI: Inferred from physical interaction	24986880	GOA
located in microtubule	IDA IDA: Inferred from direct assay	21525035	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

DYNC1H1 Protein Structure

DHC_N1

DHC_N2

AAA_6

AAA_5

AAA_7

AAA_8

AAA_9

Dynein_heavy

0
800
1600
2400
3200
4000
4646 a.a.

Protein Preferred Names	Protein Names
cytoplasmic dynein 1 heavy chain 1	dynein heavy chain, cytosolic

DYNC1H1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DYNC1H1	Q14204	COX4I1	Homo sapiens	Q86WV2	Y2H Array	32814053
Intra	DYNC1H1	Q14204	COX4I1	Homo sapiens	Q86WV2	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	COX4I1	Homo sapiens	Q86WV2	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	NEUROG1	Homo sapiens	Q92886	Y2H Array	32814053
Intra	DYNC1H1	Q14204	NEUROG1	Homo sapiens	Q92886	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	NEUROG1	Homo sapiens	Q92886	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	WBP1L	Homo sapiens	Q9NX94	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	WBP1L	Homo sapiens	Q9NX94	Y2H Array	32814053
Intra	DYNC1H1	Q14204	WBP1L	Homo sapiens	Q9NX94	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	PPP1R12B	Homo sapiens	O60237-2	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	PPP1R12B	Homo sapiens	O60237-2	Y2H Array	32814053
Intra	DYNC1H1	Q14204	PPP1R12B	Homo sapiens	O60237-2	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	CDK8	Homo sapiens	P49336-2	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	CDK8	Homo sapiens	P49336-2	Y2H Array	32814053
Intra	DYNC1H1	Q14204	CDK8	Homo sapiens	P49336-2	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	FA2H	Homo sapiens	Q7L5A8	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	FA2H	Homo sapiens	Q7L5A8	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	FA2H	Homo sapiens	Q7L5A8	Y2H Array	32814053
Intra	DYNC1H1	Q14204	TEX12	Homo sapiens	Q9BXU0	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	TEX12	Homo sapiens	Q9BXU0	Y2H Array	32814053
Intra	DYNC1H1	Q14204	TEX12	Homo sapiens	Q9BXU0	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	ASPH	Homo sapiens	Q12797-6	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	ASPH	Homo sapiens	Q12797-6	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	ASPH	Homo sapiens	Q12797-6	Y2H Array	32814053
Intra	DYNC1H1	Q14204	RTP4	Homo sapiens	Q96DX8	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	RTP4	Homo sapiens	Q96DX8	Y2H Array	32814053
Intra	DYNC1H1	Q14204	RTP4	Homo sapiens	Q96DX8	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	ATP23	Homo sapiens	Q9Y6H3	Y2H Array	32814053
Intra	DYNC1H1	Q14204	ATP23	Homo sapiens	Q9Y6H3	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	ATP23	Homo sapiens	Q9Y6H3	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	IL16	Homo sapiens	Q14005-2	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	IL16	Homo sapiens	Q14005-2	Y2H Array	32814053
Intra	DYNC1H1	Q14204	IL16	Homo sapiens	Q14005-2	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	CRYBB3	Homo sapiens	P26998	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	CRYBB3	Homo sapiens	P26998	Y2H Array	32814053
Intra	DYNC1H1	Q14204	CRYBB3	Homo sapiens	P26998	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	PSEN2	Homo sapiens	P49810	Anti Bait CoIP	21163940
Intra	DYNC1H1	Q14204	BZW1	Homo sapiens	Q7L1Q6-2	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	BZW1	Homo sapiens	Q7L1Q6-2	Y2H Array	32814053
Intra	DYNC1H1	Q14204	BZW1	Homo sapiens	Q7L1Q6-2	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	TIMM17B	Homo sapiens	O60830	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	TIMM17B	Homo sapiens	O60830	Y2H Array	32814053
Intra	DYNC1H1	Q14204	TIMM17B	Homo sapiens	O60830	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	ZHX1-C8orf76	Homo sapiens	Q96EF9	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	ZHX1-C8orf76	Homo sapiens	Q96EF9	Y2H Array	32814053
Intra	DYNC1H1	Q14204	ZHX1-C8orf76	Homo sapiens	Q96EF9	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	SCAPER	Homo sapiens	Q9BY12-3	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	SCAPER	Homo sapiens	Q9BY12-3	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	SCAPER	Homo sapiens	Q9BY12-3	Y2H Array	32814053
Intra	DYNC1H1	Q14204	TMPRSS6	Homo sapiens	Q8IU80-2	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	TMPRSS6	Homo sapiens	Q8IU80-2	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	TMPRSS6	Homo sapiens	Q8IU80-2	Y2H Array	32814053
Intra	DYNC1H1	Q14204	NTF3	Homo sapiens	P20783-2	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	NTF3	Homo sapiens	P20783-2	Y2H Array	32814053
Intra	DYNC1H1	Q14204	NTF3	Homo sapiens	P20783-2	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	b2raf7_human	Homo sapiens	B2RAF7	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	b2raf7_human	Homo sapiens	B2RAF7	Y2H Array	32814053
Intra	DYNC1H1	Q14204	b2raf7_human	Homo sapiens	B2RAF7	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	PRAM1	Homo sapiens	Q96QH2	Y2H Array	32814053
Intra	DYNC1H1	Q14204	PRAM1	Homo sapiens	Q96QH2	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	PRAM1	Homo sapiens	Q96QH2	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	ARFGAP3	Homo sapiens	Q9NP61	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	ARFGAP3	Homo sapiens	Q9NP61	Y2H Array	32814053
Intra	DYNC1H1	Q14204	ARFGAP3	Homo sapiens	Q9NP61	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	MAPK11	Homo sapiens	Q15759	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	MAPK11	Homo sapiens	Q15759	Y2H Array	32814053
Intra	DYNC1H1	Q14204	MAPK11	Homo sapiens	Q15759	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	DUSP10	Homo sapiens	Q9Y6W6	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	DUSP10	Homo sapiens	Q9Y6W6	Y2H Array	32814053
Intra	DYNC1H1	Q14204	DUSP10	Homo sapiens	Q9Y6W6	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
Intra	DYNC1H1	Q14204	CFL2	Homo sapiens	Q9Y281	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	CFL2	Homo sapiens	Q9Y281	Y2H Array	32814053
Intra	DYNC1H1	Q14204	CFL2	Homo sapiens	Q9Y281	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	DCUN1D5	Homo sapiens	Q9BTE7	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	DCUN1D5	Homo sapiens	Q9BTE7	Y2H Array	32814053
Intra	DYNC1H1	Q14204	DCUN1D5	Homo sapiens	Q9BTE7	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	POLR2E	Homo sapiens	P19388	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	POLR2E	Homo sapiens	P19388	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	POLR2E	Homo sapiens	P19388	Y2H Array	32814053
Intra	DYNC1H1	Q14204	EIF2B5	Homo sapiens	Q13144	Y2H Array	32814053
Intra	DYNC1H1	Q14204	EIF2B5	Homo sapiens	Q13144	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	EIF2B5	Homo sapiens	Q13144	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	GADD45A	Homo sapiens	P24522	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	GADD45A	Homo sapiens	P24522	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	GADD45A	Homo sapiens	P24522	Y2H Array	32814053
Intra	DYNC1H1	Q14204	HTT	Homo sapiens	P42858	Y2H	17500595
Intra	DYNC1H1	Q14204	MAP3K5	Homo sapiens	Q99683	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	MAP3K5	Homo sapiens	Q99683	Y2H Array	32814053
Intra	DYNC1H1	Q14204	MAP3K5	Homo sapiens	Q99683	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	DISC1	Homo sapiens	Q9NRI5	Y2H	17043677
Intra	DYNC1H1	Q14204	WDR5	Homo sapiens	P61964	Y2H Array	32814053
Intra	DYNC1H1	Q14204	WDR5	Homo sapiens	P61964	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	WDR5	Homo sapiens	P61964	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	CTSH	Homo sapiens	P09668	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	CTSH	Homo sapiens	P09668	Y2H Array	32814053
Intra	DYNC1H1	Q14204	CTSH	Homo sapiens	P09668	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	RXRG	Homo sapiens	P48443	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	RXRG	Homo sapiens	P48443	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	RXRG	Homo sapiens	P48443	Y2H Array	32814053
Intra	DYNC1H1	Q14204	WWP2	Homo sapiens	O00308	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	WWP2	Homo sapiens	O00308	Y2H Array	32814053
Intra	DYNC1H1	Q14204	WWP2	Homo sapiens	O00308	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	BEX2	Homo sapiens	Q9BXY8	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	BEX2	Homo sapiens	Q9BXY8	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	BEX2	Homo sapiens	Q9BXY8	Y2H Array	32814053
Intra	DYNC1H1	Q14204	BAG3	Homo sapiens	O95817	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	BAG3	Homo sapiens	O95817	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	BAG3	Homo sapiens	O95817	Y2H Array	32814053
Intra	DYNC1H1	Q14204	SPATA46	Homo sapiens	Q5T0L3	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	SPATA46	Homo sapiens	Q5T0L3	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	SPATA46	Homo sapiens	Q5T0L3	Y2H Array	32814053
Intra	DYNC1H1	Q14204	q96ej4_human	Homo sapiens	Q96EJ4	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	q96ej4_human	Homo sapiens	Q96EJ4	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	q96ej4_human	Homo sapiens	Q96EJ4	Y2H Array	32814053
Intra	DYNC1H1	Q14204	OTX2	Homo sapiens	P32243-2	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	OTX2	Homo sapiens	P32243-2	Y2H Array	32814053
Intra	DYNC1H1	Q14204	OTX2	Homo sapiens	P32243-2	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	LGALS9C	Homo sapiens	Q6DKI2	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	LGALS9C	Homo sapiens	Q6DKI2	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	LGALS9C	Homo sapiens	Q6DKI2	Y2H Array	32814053
Intra	DYNC1H1	Q14204	TMTC1	Homo sapiens	Q8IUR5-4	Y2H Array	32814053
Intra	DYNC1H1	Q14204	TMTC1	Homo sapiens	Q8IUR5-4	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	TMTC1	Homo sapiens	Q8IUR5-4	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	PABIR3	Homo sapiens	Q6P4D5-2	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	PABIR3	Homo sapiens	Q6P4D5-2	Y2H Pooling	32814053
Intra	DYNC1H1	Q14204	PABIR3	Homo sapiens	Q6P4D5-2	Y2H Array	32814053
Intra	DYNC1H1	Q14204	TCAP	Homo sapiens	O15273	Validated Y2H	32814053
Intra	DYNC1H1	Q14204	TCAP	Homo sapiens	O15273	Y2H Array	32814053
Intra	DYNC1H1	Q14204	TCAP	Homo sapiens	O15273	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Charcot-Marie-Tooth Disease, Axonal, Type 2o	Charcot-Marie-Tooth Disease Axonal Type 2o CMT2O Autosomal Dominant Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Neuropathy Axonal Type 2o Charcot-Marie-Tooth Neuropathy, Axonal, Type 2o Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2o Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease 2o Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2o
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	SMALED1 Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant Kugelberg-Welander Syndrome, Autosomal Dominant Smaled Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 1, Ad Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 1 Dync1h1-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy Dync1h1-Related Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy Spinal Muscular Atrophy, Lower Extremity-Predominant 1, Autosomal Dominant Autosomal Dominant Childhood Proximal Spinal Muscular Atrophy Autosomal Dominant Juvenile Proximal Spinal Muscular Atrophy Autosomal Dominant Kugelberg-Welander Syndrome Sma-Led
Intellectual Developmental Disorder, Autosomal Dominant 13	MRD13 Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 13, With Neuronal Migration Defects Autosomal Dominant Non-Syndromic Intellectual Disability 13 Autosomal Dominant Intellectual Developmental Disorder 13 Autosomal Dominant Mental Retardation 13 Mental Retardation, Autosomal Dominant, Type 13
Spinal Muscular Atrophy With Lower Extremity Predominant	Spinal Muscular Atrophy With Lower Extremity Predominance Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures Kugelberg-Welander Syndrome, Autosomal Dominant Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures Sma-Led Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity, Dominant
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]
Neuronal Migration Disorders	Abnormality Of Neuronal Migration Malformations Of Cortical Development, Group Ii Neuronal Dysmigration Syndromes
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
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
Autosomal Dominant Non-Syndromic Intellectual Disability
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Polymicrogyria	Pmg
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
Spinal Muscular Atrophy With Lower Extremity Predominant 1	Spinal Muscular Atrophy With Lower Extremity Predominance 1
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Hypotonia
Myopathy	Muscular Diseases Myopathies
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Charcot-Marie-Tooth Disease, Axonal, Type 2a1	CMT2A1 Charcot-Marie-Tooth Disease Type 2a1 Hereditary Motor And Sensory Neuropathy Iia1 Hmsn Iia1 Hmsn2a1 Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease Neuronal Type 2a1 Charcot-Marie-Tooth Neuropathy Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1 Charcot-Marie-Tooth Disease, Neuronal, Type 2a1 Charcot-Marie-Tooth Neuropathy, Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1 Charcot-Marie-Tooth Disease 2a1 Charcot-Marie-Tooth Disease Axonal Type 2a1
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
Hypomagnesemia 6, Renal	Renal Hypomagnesemia 6 HOMG6 Renal Hypomagnesemia-6 Hypomagnesemia 6 Hypomagnesemia, Type 6, Renal
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
Intellectual Developmental Disorder, Autosomal Dominant 35	MRD35 Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome Autosomal Dominant Non-Syndromic Intellectual Disability 35 Mental Retardation, Autosomal Dominant 35 Autosomal Dominant Intellectual Developmental Disorder 35 Autosomal Dominant Mental Retardation 35 Mental Retardation, Autosomal Dominant, Type 35
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Charcot-Marie-Tooth Disease, Axonal, Type 2q	Charcot-Marie-Tooth Disease Axonal Type 2q CMT2Q Charcot-Marie-Tooth Neuropathy, Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q Charcot-Marie-Tooth Neuropathy Type 2q Charcot-Marie-Tooth Disease 2q Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q Charcot-Marie-Tooth Neuropathy Axonal Type 2q
Distal Hereditary Motor Neuronopathy Type 7	Dhmn7 Dhmnvpy Distal Spinal Muscular Atrophy With Vocal Cord Paralysis
Perry Syndrome	Parkinsonism With Alveolar Hypoventilation And Mental Depression PERRYS
Developmental And Epileptic Encephalopathy 66	DEE66 Epileptic Encephalopathy, Early Infantile, 66 Eiee66 Developmental And Epileptic Encephalopathy, 66 Early Infantile Epileptic Encephalopathy 66 Encephalopathy, Epileptic, Early Infantile, Type 66
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
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	CMTX2 Charcot-Marie-Tooth Disease X-Linked Recessive 2 X-Linked Charcot-Marie-Tooth Disease Type 2 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2 Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Congenital Disorder Of Glycosylation, Type Iim	CDG2M Congenital Disorder Of Glycosylation Type Iim Slc35a2-Cdg Epileptic Encephalopathy, Early Infantile, 22 Cdg-Iim Cdg Iim Cdgiim Developmental And Epileptic Encephalopathy 22 Eiee22 Congenital Disorder Of Glycosylation Type 2m Cdg Syndrome Type Iim Dee22 Slc35a2-Congenital Disorder Of Glycosylation Epileptic Encephalopathy, Early Infantile, 22 Eiee22 Congenital Disorder Of Glycosylation 2m Congenital Disorder Of Glycosylation X-Linked Glycosylation, Congenital Disorder Of, Type Iim
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
Tubulinopathy	Tubulinopathies
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral Perisylvian Polymicrogyria Polymicrogyria, Bilateral Perisylvian Pmgx Perisylvian Syndrome, Congenital Bilateral Cbps Congenital Bilateral Perisylvian Syndrome Perisylvian Syndrome BPPX Bpp
Neuronopathy, Distal Hereditary Motor, Type Iic	HMN2C Hmn Iic Dhmn2c Distal Hereditary Motor Neuronopathy Type 2c Distal Hereditary Motor Neuropathy Type Iic Neuronopathy, Distal Hereditary Motor, Type 2c Neuropathy, Distal Hereditary Motor, Type Iic Neuronopathy, Distal Hereditary Motor, 2c Dhmn Iic Neuropathy, Motor, Distal, Hereditary, Type 2c
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
Band Heterotopia	Subcortical Band Heterotopia Double Cortex Syndrome Subcortical Laminar Heterotopia Double Cortex Band Heterotopia Of Brain BH Heco Heterotopic Cortex Familial Band Heterotopia Dc Dc Syndrome Heterotopia, Subcortical Band Sbh Sclh Bhy
Scapuloperoneal Spinal Muscular Atrophy	SPSMA Amyotrophy, Neurogenic Scapuloperoneal, New England Type Neurogenic Scapuloperoneal Amyotrophy, New England Type Scapuloperoneal Neuronopathy Spinal Muscular Atrophy, Scapuloperoneal Amyotrophy Neurogenic Scapuloperoneal New England Type Muscular Atrophy, Spinal Scapuloperoneal Form Of Spinal Muscular Atrophy
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Autosomal Dominant Distal Hereditary Motor Neuronopathy	Autosomal Dominant Distal Hereditary Motor Neuropathy Autosomal Dominant Dhmn Autosomal Dominant Distal Spinal Muscular Atrophy
Autosomal Dominant Intellectual Developmental Disorder	Autosomal Dominant Mental Retardation Autosomal Dominant Non-Syndromic Mental Retardation Autosomal Dominant Non-Syndromic Intellectual Disability Mental Retardation, Autosomal Dominant
Miller-Dieker Lissencephaly Syndrome	Miller-Dieker Syndrome Mds MDLS Miller Dieker Syndrome Classical Lissencephaly Syndrome Lissencephaly Due To 17p13.3 Deletion Monosomy 17p13.3 Telomeric Deletion 17p Classical Lissencephaly
Spinal Muscular Atrophy, Type I	Werdnig-Hoffmann Disease SMA1 Spinal Muscular Atrophy 1 Sma I Sma, Infantile Acute Form Muscular Atrophy, Infantile Spinal Muscular Atrophy-1 Hmn Proximal Type I Infantile Muscular Atrophy Proximal Spinal Muscular Atrophy Type 1 Sma Type 1 Sma Type I Sma-I Hereditary Motor Neuropathy Proximal Type I Progressive Muscular Atrophy Of Infancy Proximal Spinal Muscular Atrophy, Type 1 Werdnig Hoffmann Disease Infantile Spinal Muscular Atrophy Infantile-Onset Spinal Muscular Atrophy Proximal Hereditary Motor Neuropathy Type I Sma Infantile Acute Form Spinal Muscular Atrophy Type I Werdnig-Hoffman Disease Atrophy, Muscular, Spinal, Type 1
Spastic Paraplegia 10, Autosomal Dominant	SPG10 Hereditary Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Type 10 Spastic Paraplegia 10 Spastic Paraplegia 10 With Or Without Peripheral Neuropathy Autosomal Dominant Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Spastic Paraplegia, Autosomal Dominant Paraplegia, Spastic, Autosomal Dominant, Type 10
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
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
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
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]
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04082	DYNC1H1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DYNC1H1	VGNC	VGNC:71951
Rattus norvegicus	DYNC1H1	RGD	RGD:2511
Bos taurus	DYNC1H1	VGNC	VGNC:50143
Canis familiaris	DYNC1H1	VGNC	VGNC:40143
Felis catus	DYNC1H1	VGNC	VGNC:80982
Mus musculus	DYNC1H1	MGD	MGI:103147
Others	DYNC1H1	NCBI