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Aliases for AARS Gene

Aliases for AARS Gene

  • Alanyl-TRNA Synthetase 2 3 4 5
  • Alanine TRNA Ligase 1, Cytoplasmic 2 3
  • Renal Carcinoma Antigen NY-REN-42 3 4
  • EC 6.1.1.7 4 61
  • AlaRS 3 4
  • Alanyl-TRNA Synthetase, Cytoplasmic 3
  • Alanine--TRNA Ligase, Cytoplasmic 3
  • EC 6.1.1 61
  • EIEE29 3
  • CMT2N 3

External Ids for AARS Gene

Previous GeneCards Identifiers for AARS Gene

  • GC16M060988
  • GC16M070706
  • GC16M070021
  • GC16M070062
  • GC16M068843
  • GC16M070286
  • GC16M056119

Summaries for AARS Gene

Entrez Gene Summary for AARS Gene

  • The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]

GeneCards Summary for AARS Gene

AARS (Alanyl-TRNA Synthetase) is a Protein Coding gene. Diseases associated with AARS include Charcot-Marie-Tooth Disease, Axonal, Type 2N and Epileptic Encephalopathy, Early Infantile, 29. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include nucleic acid binding and tRNA binding. An important paralog of this gene is AARS2.

UniProtKB/Swiss-Prot for AARS Gene

  • Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AARS Gene

Genomics for AARS Gene

Regulatory Elements for AARS Gene

Enhancers for AARS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G070414 2 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -129.7 -129706 10.3 HDGF PKNOX1 CREB3L1 MLX ARNT WRNIP1 ZFP64 ARID4B SIN3A DMAP1 COG4 RNU6-23P RPS27P26 LOC100506083 AARS DDX19B SMG1P7 PDXDC2P-NPIPB14P FUK WWP2
GH16G070436 1.4 ENCODE dbSUPER 10 -148.6 -148591 3.9 CREB3L1 AGO1 FEZF1 YY1 SLC30A9 ZNF143 SP3 MEF2D SSRP1 ZNF610 SMG1P7 CLEC18A PDXDC2P-NPIPB14P SF3B3 LOC400541 NONOP1 PDXDC2P EXOSC6 COG4 PDPR
GH16G069857 1.5 Ensembl ENCODE dbSUPER 9.1 +429.3 429274 5.6 FOXA2 MLX ARID4B ZNF48 TCF12 ZNF121 SP5 ZHX2 MXD4 MIER2 NPIPB14P ENSG00000252443 WWP2 DDX19B AARS PDXDC2P-NPIPB14P NQO1 LOC100506083 CLEC18A PDXDC2P
GH16G070255 1.1 ENCODE 12.3 +33.8 33790 1.1 FOXA2 PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 SF3B3 PDPR NONOP1 EXOSC6 AARS DDX19B COG4 PDXDC2P-NPIPB14P NIP7 PDXDC2P
GH16G070113 1.2 ENCODE dbSUPER 11.1 +175.4 175370 1.8 HDGF ATF1 MLX CREB3L1 ARID4B SIN3A FEZF1 DMAP1 BRCA1 GLIS2 CLEC18A AARS COG4 EXOSC6 PDPR PIR41675
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AARS on UCSC Golden Path with GeneCards custom track

Promoters for AARS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000087550 450 2201 PKNOX1 FOXA2 CREB3L1 AGO1 ZFP64 WRNIP1 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for AARS Gene

Chromosome:
16
Start:
70,252,295 bp from pter
End:
70,289,550 bp from pter
Size:
37,256 bases
Orientation:
Minus strand

Genomic View for AARS Gene

Genes around AARS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AARS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AARS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AARS Gene

Proteins for AARS Gene

  • Protein details for AARS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49588-SYAC_HUMAN
    Recommended name:
    Alanine--tRNA ligase, cytoplasmic
    Protein Accession:
    P49588
    Secondary Accessions:
    • A6NF14
    • B4DR45
    • Q53GV7
    • Q96FA0

    Protein attributes for AARS Gene

    Size:
    968 amino acids
    Molecular mass:
    106810 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for AARS Gene

    Alternative splice isoforms for AARS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AARS Gene

Selected DME Specific Peptides for AARS Gene

P49588:
  • GPCGPCSE
  • SFGDYFK
  • KDNFWEMG
  • WNLVFIQY
  • QKGSLVA
  • EDLIMLDIYAIEEL
  • PDRLRFD
  • ERLYVTYFGGDEAAGLE
  • FYAEQGGQ
  • TFFEMLG
  • YPDPVRVV
  • EIWNLVF
  • GGYVLHIG
  • MGDTGPCGP
  • RETLKSLKKVMDDLDRASKADVQKRVLEKTKQ
  • LYDTYGF
  • AVIPQWQ
  • THILNFAL
  • IDTGMGLER
  • YDTYGFP
  • SNYDTDL
  • KGLVVDMDGFEEER
  • IDSNPNQPLVILEMESGASAKALNEALKLFK
  • ERLVSVLQ
  • NAGMNQFK
  • GTHLRNSS
  • LRRAVRY
  • TDDSPKYNY
  • NYDTDLF
  • LAQLKSQGKGAG
  • DTGPCGPC
  • LRRILRRA
  • DRLRFDF
  • VRVVSIG
  • RTITVALADGGRPDNTGR
  • RGYVLRR
  • GLERLVS
  • SVLQNKMSNYDTD
  • CIRAGGKHNDL

Post-translational modifications for AARS Gene

  • ISGylated.
  • Ubiquitination at Lys19, posLast=384384, posLast=677677, posLast=747747, posLast=762762, Lys820, and posLast=846846
  • Modification sites at PhosphoSitePlus

Other Protein References for AARS Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for AARS Gene

Gene Families for AARS Gene

Suggested Antigen Peptide Sequences for AARS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49588

UniProtKB/Swiss-Prot:

SYAC_HUMAN :
  • Consists of three domains; the N-terminal catalytic domain, the editing domain and the C-terminal C-Ala domain. The editing domain removes incorrectly charged amino acids, while the C-Ala domain, along with tRNA(Ala), serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs.
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
Domain:
  • Consists of three domains; the N-terminal catalytic domain, the editing domain and the C-terminal C-Ala domain. The editing domain removes incorrectly charged amino acids, while the C-Ala domain, along with tRNA(Ala), serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs.
  • The C-terminal C-Ala domain (residues 756 to 968), along with tRNA(Ala), serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs. The human domain can be used in vitro to replace the corresponding domain in E.coli.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with AARS: view

Function for AARS Gene

Molecular function for AARS Gene

GENATLAS Biochemistry:
alanyl-tRNA synthetase,target autoantibodies in the immune disease polymyositis/dermatomyositis
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.1 uM for tRNA(Ala) (at 37 Celsius) {ECO:0000269 PubMed:25817015}; Note=kcat is 0.4 sec(-1). {ECO:0000269 PubMed:25817015};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-alanine + tRNA(Ala) = AMP + diphosphate + L-alanyl-tRNA(Ala).
UniProtKB/Swiss-Prot Function:
Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain.

Enzyme Numbers (IUBMB) for AARS Gene

Gene Ontology (GO) - Molecular Function for AARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IBA --
GO:0000166 nucleotide binding IEA --
GO:0002161 aminoacyl-tRNA editing activity IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
genes like me logo Genes that share ontologies with AARS: view
genes like me logo Genes that share phenotypes with AARS: view

Human Phenotype Ontology for AARS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AARS Gene

MGI Knock Outs for AARS:

Animal Model Products

  • Taconic Biosciences Mouse Models for AARS

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AARS

No data available for Transcription Factor Targets and HOMER Transcription for AARS Gene

Localization for AARS Gene

Subcellular locations from UniProtKB/Swiss-Prot for AARS Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AARS gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 3
nucleus 3
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 7654687
GO:0005739 NOT mitochondrion IBA --
GO:0005829 cytosol IDA,TAS --
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with AARS: view

Pathways & Interactions for AARS Gene

genes like me logo Genes that share pathways with AARS: view

Pathways by source for AARS Gene

1 KEGG pathway for AARS Gene

Gene Ontology (GO) - Biological Process for AARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IEA --
GO:0006400 tRNA modification IBA,IEA --
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006419 alanyl-tRNA aminoacylation IEA,IBA --
genes like me logo Genes that share ontologies with AARS: view

No data available for SIGNOR curated interactions for AARS Gene

Drugs & Compounds for AARS Gene

(7) Drugs for AARS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

(5) Additional Compounds for AARS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with AARS: view

Transcripts for AARS Gene

Unigene Clusters for AARS Gene

Alanyl-tRNA synthetase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AARS

Alternative Splicing Database (ASD) splice patterns (SP) for AARS Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^
SP1: - - -
SP2: - -
SP3:
SP4: -
SP5:
SP6:

ExUns: 21 ^ 22a · 22b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for AARS Gene

GeneLoc Exon Structure for
AARS
ECgene alternative splicing isoforms for
AARS

Expression for AARS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AARS Gene

Protein differential expression in normal tissues from HIPED for AARS Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.3) and Lymph node (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AARS Gene



Protein tissue co-expression partners for AARS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AARS Gene:

AARS

SOURCE GeneReport for Unigene cluster for AARS Gene:

Hs.315137

Evidence on tissue expression from TISSUES for AARS Gene

  • Liver(4.6)
  • Nervous system(4.4)
  • Intestine(3.8)
  • Heart(2.9)
  • Lung(2.9)
  • Eye(2.8)
  • Skin(2.8)
  • Muscle(2.4)
  • Pancreas(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AARS Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • eye
  • eyelid
  • face
  • head
  • skull
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • femur
  • foot
  • forearm
  • hip
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with AARS: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AARS Gene

Orthologs for AARS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AARS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AARS 34 35
  • 99.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AARS 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AARS 34 35
  • 90.98 (n)
cow
(Bos Taurus)
Mammalia AARS 34 35
  • 89.98 (n)
oppossum
(Monodelphis domestica)
Mammalia AARS 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aars 34 16 35
  • 88.05 (n)
rat
(Rattus norvegicus)
Mammalia Aars 34
  • 88.05 (n)
chicken
(Gallus gallus)
Aves AARS 34 35
  • 80.41 (n)
lizard
(Anolis carolinensis)
Reptilia AARS 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aars 34
  • 73.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6413 34
zebrafish
(Danio rerio)
Actinopterygii aars 34 35
  • 74.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta Aats-ala 36 34 35
  • 61.12 (n)
Aats-ala-m 36
  • 34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009701 34
  • 60.1 (n)
worm
(Caenorhabditis elegans)
Secernentea aars-2 34 35
  • 57.52 (n)
ars-2 36
  • 57 (a)
ars-1 36
  • 38 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR363C 34
  • 54.87 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALA1 34 35 37
  • 53.84 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F02431g 34
  • 53.55 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALATS 34
  • 53.08 (n)
rice
(Oryza sativa)
Liliopsida Os10g0182000 34
  • 54.25 (n)
Os.11722 34
barley
(Hordeum vulgare)
Liliopsida Hv.1412 34
wheat
(Triticum aestivum)
Liliopsida Ta.2136 34
corn
(Zea mays)
Liliopsida Zm.3875 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 59 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02566 34
  • 54.22 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ala1 34
  • 53.38 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1737 34
Species where no ortholog for AARS was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for AARS Gene

ENSEMBL:
Gene Tree for AARS (if available)
TreeFam:
Gene Tree for AARS (if available)

Paralogs for AARS Gene

Paralogs for AARS Gene

(1) SIMAP similar genes for AARS Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for AARS Gene

genes like me logo Genes that share paralogs with AARS: view

Variants for AARS Gene

Sequence variations from dbSNP and Humsavar for AARS Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs143370729 Pathogenic, Epileptic encephalopathy, early infantile, 29 (EIEE29) [MIM:616339] 70,255,763(+) AATCC(C/T)CCGGA nc-transcript-variant, reference, missense
rs267606621 Pathogenic, Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287] 70,268,356(-) TCTCC(A/G)CCGAG nc-transcript-variant, reference, missense
rs387906792 Pathogenic, Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287] 70,277,088(-) CTGCC(A/T)ATACC nc-transcript-variant, reference, missense
rs786205157 Pathogenic, Epileptic encephalopathy, early infantile, 29 (EIEE29) [MIM:616339] 70,277,057(-) GGGCA(A/C)ACATA nc-transcript-variant, reference, missense
rs797044801 Pathogenic 70,254,688(-) CATGG(A/C)AGCCA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for AARS Gene

Variant ID Type Subtype PubMed ID
esv2758652 CNV gain+loss 17122850
esv33745 CNV gain+loss 17666407
esv3553624 CNV deletion 23714750
esv3638952 CNV gain 21293372
nsv1061286 CNV gain 25217958
nsv428328 CNV gain+loss 18775914
nsv7285 OTHER inversion 18451855
nsv833271 CNV gain+loss 17160897

Variation tolerance for AARS Gene

Residual Variation Intolerance Score: 4.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.63; 78.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AARS Gene

Human Gene Mutation Database (HGMD)
AARS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AARS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AARS Gene

Disorders for AARS Gene

MalaCards: The human disease database

(19) MalaCards diseases for AARS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, axonal, type 2n
  • charcot-marie-tooth disease axonal type 2n
epileptic encephalopathy, early infantile, 29
  • eiee29
charcot-marie-tooth disease type 2n
  • charcot-marie-tooth disease, axonal, type 2n
charcot-marie-tooth disease, axonal, type 2s
  • charcot-marie-tooth disease, axonal, type 2e
charcot-marie-tooth disease, type 2e
  • charcot-marie-tooth disease, axonal, type 2e
- elite association - COSMIC cancer census association via MalaCards
Search AARS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYAC_HUMAN
  • Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:20045102, ECO:0000269 PubMed:22009580, ECO:0000269 PubMed:22206013}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 29 (EIEE29) [MIM:616339]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE29 patients manifest severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal symptoms, and persistently deficient myelination. {ECO:0000269 PubMed:25817015}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AARS

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AARS
genes like me logo Genes that share disorders with AARS: view

No data available for Genatlas for AARS Gene

Publications for AARS Gene

  1. A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. (PMID: 20045102) Latour P. … Rousson R. (Am. J. Hum. Genet. 2010) 3 4 22 64
  2. Human alanyl-tRNA synthetase: conservation in evolution of catalytic core and microhelix recognition. (PMID: 7654687) Shiba K. … Schimmel P. (Biochemistry 1995) 3 4 22 64
  3. Localization of two human autoantigen genes by PCR screening and in situ hybridization--glycyl-tRNA synthetase locates to 7p15 and alanyl-tRNA synthetase locates to 16q22. (PMID: 8595897) Nichols R.C. … Liu P. (Genomics 1995) 2 3 22 64
  4. Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal- recessive early-onset epileptic encephalopathy with persistent myelination defect. (PMID: 25817015) Simons C. … Vanderver A. (Am. J. Hum. Genet. 2015) 3 4 64
  5. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). (PMID: 22009580) McLaughlin H.M. … Antonellis A. (Hum. Mutat. 2012) 3 4 64

Products for AARS Gene

Sources for AARS Gene

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