KARS1 - lysyl-tRNA synthetase 1 Gene

Also Known as KRS; KARS; KARS2; LEPID; CMTRIB; DEAPLE; DFNB89

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3735

About KARS1

Cytogenetic location: 16q23.1 Genomic coordinates (GRCh38): 16:75,627,724-75,647,665 (from NCBI)

This gene has 12 transcripts (splice variants), 226 orthologues, 4 paralogues and is associated with 8 phenotypes. Ubiquitous expression in testis (RPKM 57.5), lymph node (RPKM 40.9) and 25 other tissues.

Summary

Aminoacyl-tRNA synthetases are a class of Enzymes that charge tRNAs with their cognate Amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

KARS1 Products (3)

mRNA	Protein	Name
NM_001130089.2	NP_001123561.1	lysine--tRNA ligase isoform 1
NM_001378148.1	NP_001365077.1	lysine--tRNA ligase isoform 3
NM_005548.3	NP_005539.1	lysine--tRNA ligase isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP:ADP adenylyltransferase activity	IDA IDA: Inferred from direct assay	23159739	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	18272479	GOA
enables lysine-tRNA ligase activity	IDA IDA: Inferred from direct assay	9278442	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	23159739	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ERK1 and ERK2 cascade	IGI IGI: Inferred from genetic interaction	19524539	GOA
involved in basophil activation involved in immune response	IGI IGI: Inferred from genetic interaction	19524539	GOA
involved in diadenosine tetraphosphate biosynthetic process	IDA IDA: Inferred from direct assay	23159739	GOA
involved in diadenosine tetraphosphate biosynthetic process	IGI IGI: Inferred from genetic interaction	19524539	GOA
involved in lysyl-tRNA aminoacylation	IDA IDA: Inferred from direct assay	9278442	GOA
involved in positive regulation of DNA-templated transcription	IGI IGI: Inferred from genetic interaction	19524539	GOA
involved in positive regulation of inflammatory response to antigenic stimulus	IDA IDA: Inferred from direct assay	15851690	GOA
involved in positive regulation of macrophage activation	IDA IDA: Inferred from direct assay	15851690	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of aminoacyl-tRNA synthetase multienzyme complex	IDA IDA: Inferred from direct assay	19131329	GOA
located in cytosol	IDA IDA: Inferred from direct assay	19289464	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	15851690	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	10952987	GOA
located in nucleus	IDA IDA: Inferred from direct assay	23159739	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

KARS1 Protein Structure

tRNA_anti-codon

tRNA-synt_2

0
100
200
300
400
500
597 a.a.

Protein Preferred Names	Protein Names
lysine--tRNA ligase	lysRS

KARS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KARS1	Q15046	RPSA	Homo sapiens	P08865	SPR	24983501
Intra	KARS1	Q15046	RPSA	Homo sapiens	P08865	Anti Bait CoIP	24212136
Intra	KARS1	Q15046	RPSA	Homo sapiens	P08865	NMR	24983501
Intra	KARS1	Q15046	EPRS1	Homo sapiens	P07814	Anti Tag CoIP	33961781
Intra	KARS1	Q15046	EPRS1	Homo sapiens	P07814	Anti Bait CoIP	22386318
Intra	KARS1	Q15046	AIMP2	Homo sapiens	Q13155	Y2H Pooling	16189514
Intra	KARS1	Q15046	AIMP2	Homo sapiens	Q13155	Alpha-Screen	24212136
Intra	KARS1	Q15046	AIMP2	Homo sapiens	Q13155	Y2H	21988832
Intra	KARS1	Q15046	AIMP2	Homo sapiens	Q13155	Y2H Prey Pooling	25416956
Intra	KARS1	Q15046	AIMP2	Homo sapiens	Q13155	SAXS	21536907
Intra	KARS1	Q15046	AIMP2	Homo sapiens	Q13155	Anti Tag CoIP	33961781
Intra	KARS1	Q15046	AIMP2	Homo sapiens	Q13155	Pull Down	21536907
Intra	KARS1	Q15046	KARS1	Homo sapiens	Q15046	Fluorescence Spectr	18272479
Intra	KARS1	Q15046	AIMP2	Homo sapiens	Q13155	GMS	21536907
Intra	KARS1	Q15046	AIMP2	Homo sapiens	Q13155	Y2H Array	25416956
Intra	KARS1	Q15046	KARS1	Homo sapiens	Q15046	X-Ray Diffraction	18272479
Intra	KARS1	Q15046	AIMP2	Homo sapiens	Q13155	Y2H	24212136
Intra	KARS1	Q15046	AIMP2	Homo sapiens	Q13155	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant KARS1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70840	KARS Protein, Human (HEK293, His)	Q15046-1 (A2-V597)	≥ 95%, as determined by reducing SDS-PAGE.

KARS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82331	KARS Antibody (YA2076)	WB, IHC-P, ICC/IF, IP	Human, Mouse, Rat
HY-P85266	KARS Antibody (YA4958)	WB; IHC-P; IHC-F; ICC/IF; IF-Tissue; IP	Human, Mouse

Related Diseases

Diseases	Alias
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Charcot-Marie-Tooth Disease Recessive Intermediate B CMTRIB Ri-Cmtb Charcot-Marie-Tooth Disease, Recessive Intermediate, B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B Charcot-Marie-Tooth Neuropathy Recessive Intermediate B Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B Ri-Cmt Type B Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	LEPID Leukoencephalopathy, Progressive, Infantile-Onset, With/Without Deafness
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	DEAPLE
Deafness, Autosomal Recessive 89	DFNB89 Autosomal Recessive Nonsyndromic Deafness 89 Autosomal Recessive Deafness 89 Deafness, Autosomal Recessive, 89 Deafness, Autosomal Recessive, Type 89
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Leukodystrophy	Leukodystrophies
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Non-Syndromic Genetic Deafness	Nonsyndromic Genetic Hearing Loss Isolated Genetic Deafness Isolated Genetic Hearing Loss Non-Syndromic Genetic Hearing Loss
Nonsyndromic Hearing Loss	Nonsyndromic Deafness Nonsyndromic Hearing Impairment Nonsyndromic Hearing Loss And Deafness Deafness, Nonsyndromic Isolated Deafness
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Hypotonia
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Polymyositis	Pm - [Polymyositis]
Neuronopathy, Distal Hereditary Motor, Type Va	Dsmav Distal Hereditary Motor Neuropathy Type V Young Adult-Onset Distal Hereditary Motor Neuropathy Neuronopathy, Distal Hereditary Motor, Type V Distal Hereditary Motor Neuronopathy Type 5 Dhmn5 Distal Spinal Muscular Atrophy Type 5 HMN5A Hmn5 Dhmn5a Dhmn Va Dsmava Spinal Muscular Atrophy, Distal, With Upper Limb Predominance Distal Hmn V Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 Dsma5 Young Adult-Onset Dhmn Dhmn-V Hmn V Neuronopathy, Distal Hereditary Motor, Type 5a Hmn 5a Neuropathy, Distal Hereditary Motor, Type Va Spinal Muscular Atrophy, Distal, Type Va Spinal Muscular Atrophy, Distal, Type V Distal Spinal Muscular Atrophy Type V Distal Spinal Muscular Atrophy With Upper Limb Predominance Distal Hereditary Motor Neuronopathy Type 5a Distal Hmn Va Distal Spinal Muscular Atrophy Type Va Distal Hereditary Motor Neuropathy, Type V Distal Hereditary Motor Neuronopathy, Type V Distal Spinal Muscular Atrophy, Type V Spinal Muscular Atrophy, Distal Type V Distal Hereditary Motor Neuropathy Type 5 Neuronopathy, Distal Hereditary Motor, 5a Dhmn V Distal Hereditary Motor Neuronopathy Type Va Distal Hereditary Motor Neuropathy Type Va Dsma-V Hmn Va Spinal Muscular Atrophy Distal Type V Spinal Muscular Atrophy Distal Type Va Spinal Muscular Atrophy Distal With Upper Limb Predominance Neuropathy, Distal Hereditary Motor, Type V Neuropathy, Motor, Distal, Hereditary, Type Va
Microcytic Anemia	Iron-Refractory Iron Deficiency Anemia
Charcot-Marie-Tooth Disease, Axonal, Type 2d	Charcot-Marie-Tooth Disease Type 2d CMT2D Charcot-Marie-Tooth Disease, Type 2d Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d Charcot-Marie-Tooth Disease Neuronal Type 2d Charcot-Marie-Tooth Neuropathy Type 2d Charcot-Marie-Tooth Disease, Neuronal, Type 2d Charcot-Marie-Tooth Neuropathy, Type 2d Charcot-Marie-Tooth Disease 2d Charcot-Marie-Tooth Disease Axonal Type 2d
Leukodystrophy, Hypomyelinating, 3	Hypomyelinating Leukodystrophy 3 HLD3 Pelizaeus-Merzbacher-Like Disease Due To Aimp1 Mutation Leukodystrophy, Hypomyelinating 3 Perinatal Sudanophilic Leukodystrophy Leukodystrophy, Hypomyelinating, Type 3 Pelizaeus-Merzbacher-Like Disease, Autosomal Recessive, 2
Charcot-Marie-Tooth Disease, Dominant Intermediate C	CMTDIC Charcot-Marie-Tooth Disease Dominant Intermediate C Di-Cmtc Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C Charcot-Marie-Tooth Neuropathy Dominant Intermediate C Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C
Charcot-Marie-Tooth Disease, Axonal, Type 2n	Charcot-Marie-Tooth Disease Axonal Type 2n CMT2N Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Neuropathy Axonal Type 2n Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease 2n Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n Charcot-Marie-Tooth Disease, Type 2n
Developmental And Epileptic Encephalopathy 75	DEE75 Epileptic Encephalopathy, Early Infantile, 75 Eiee75 Developmental And Epileptic Encephalopathy, 75 Early Infantile Epileptic Encephalopathy 75
Charcot-Marie-Tooth Disease, Axonal, Type 2u	CMT2U Charcot-Marie-Tooth Disease Axonal Type 2u Charcot-Marie-Tooth Neuropathy, Type 2u Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2u Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2u Charcot-Marie-Tooth Neuropathy Type 2u Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Mars Mutation Charcot-Marie-Tooth Disease 2u
Charcot-Marie-Tooth Disease Intermediate Type	Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Dominant Intermediate Charcot-Marie-Tooth Disease Recessive Intermediate Intermediate Cmt Intermediate Hereditary Motor And Sensory Neuropathy Charcot-Marie-Tooth Disease, Intermediate Type Charcot-Marie-Tooth, Intermediate
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
Charcot-Marie-Tooth Disease, Dominant Intermediate F	CMTDIF Charcot-Marie-Tooth Disease Dominant Intermediate F Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, F Charcot-Marie-Tooth Disease, Dominant Intermediate, Type F
Pontocerebellar Hypoplasia, Type 6	Pontocerebellar Hypoplasia Type 6 PCH6 Fatal Infantile Encephalopathy With Mitochondrial Respiratory Chain Defects Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects Encephalopathy Fatal Infantile With Mitochondrial Respiratory Chain Defects Pontocerebellar Hypoplasia 6 Hypoplasia, Pontocerebellar, Type 6
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
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	MLASA2 Myopathy With Lactic Acidosis And Sideroblastic Anemia 2 Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2
Autosomal Dominant Distal Hereditary Motor Neuronopathy	Autosomal Dominant Distal Hereditary Motor Neuropathy Autosomal Dominant Dhmn Autosomal Dominant Distal Spinal Muscular Atrophy
Cataract 4, Multiple Types	Cataract 4 Multiple Types CTRCT4 Cca3 Pcc Aculeiform Cataract Cataract 4, Multiple Types, With Or Without Microcornea Cataract, Crystalline Aculeiform Caca Cataract, Congenital, Cerulean Type, 3 Congenital Cataract Cerulean Type 3 Cataract Congenital Dominant Non Nuclear Ccp Cataract, Nonnuclear Polymorphic Congenital Cataract, Punctate, Progressive Juvenile-Onset Cataract 4 Multiple Types With Or Without Microcornea Autosomal Dominant Nonnuclear Polymorphic Congenital Cataract Cataract, Polymorphic Congenital Congenital Cataract Blue Dot Type 3 Congenital Non-Nuclear Polymorphic Cataract Crystalline Aculeiform Cataract Punctate, Progressive Juvenile-Onset, Cataract Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
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
Immune Deficiency Disease	Immunodeficiency Primary Immunodeficiency Primary Immunodeficiency Disease Immunologic Deficiency Syndromes Hypoimmunity Immune Deficiency Disorder Immunodeficiency Syndrome Immune Disorder Primary Immune Deficiency Disorder Immune System Diseases Human Immunodeficiency Virus Infection Hiv - [Human Immunodeficiency Virus Infection] Hiv Positive Nos Hiv Disease Acquired Immune Deficiency Syndrome-Related Complex Aids-Like Syndrome Aids-Related Complex Nos Arc - [Aids-Related Complex] Immunodeficiency Due To Human Immunodeficiency Virus Infection Unspecified Human Immunodeficiency Virus Disease Hiv Disease Nos Human Immunodeficiency Virus Positive Nos Hiv Nos Deficiency Of Complement Initial Pathway Deficiency Of Complement Terminal Pathway Cfdd - [Complement Factor D Deficiency] Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency Nonfamilial Hypogammaglobulinaemia Common Variable Immune Deficiency Nonfamilial Agammaglobulinaemia Common Variable Agammaglobulinaemia Agammaglobulinaemia Nos Agammaglobulinaemia Antibody Deficiency Syndrome Hypogammaglobulinaemia Antibody Deficiency Syndrome Acquired Agammaglobulinaemia Nos Hypogammaglobulinaemia Nos Hyper Igm
Autosomal Recessive Intellectual Developmental Disorder	Mental Retardation, Autosomal Recessive Autosomal Recessive Mental Retardation Autosomal Recessive Non-Syndromic Mental Retardation Autosomal Recessive Non-Syndromic Intellectual Disability
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Spastic Ataxia	Spax Ataxia, Spastic
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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07071	KARS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P991156	Rapaprutug	Ligand	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	KARS1	VGNC	VGNC:30396
Canis familiaris	KARS1	VGNC	VGNC:42207
Rattus norvegicus	KARS1	RGD	RGD:1359653
Macaca mulatta	KARS1	VGNC	VGNC:84892
Mus musculus	KARS1	MGD	MGI:1934754
Felis catus	KARS1	VGNC	VGNC:67886
Others	KARS1	NCBI