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Aliases for MARS Gene

Aliases for MARS Gene

  • Methionyl-TRNA Synthetase 2 3 4 5
  • EC 6.1.1.10 4 58
  • METRS 3 4
  • Methionine TRNA Ligase 1, Cytoplasmic 2
  • Methionine--TRNA Ligase, Cytoplasmic 3
  • Cytosolic Methionyl-TRNA Synthetase 3
  • CMT2U 3
  • ILFS2 3
  • MTRNS 3
  • SPG70 3
  • ILLD 3
  • MRS 3

External Ids for MARS Gene

Previous GeneCards Identifiers for MARS Gene

  • GC12M059209
  • GC12P058025
  • GC12P057598
  • GC12P056168
  • GC12P056167
  • GC12P057881
  • GC12P054919

Summaries for MARS Gene

Entrez Gene Summary for MARS Gene

  • This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]

GeneCards Summary for MARS Gene

MARS (Methionyl-TRNA Synthetase) is a Protein Coding gene. Diseases associated with MARS include Interstitial Lung And Liver Disease and Charcot-Marie-Tooth Disease, Axonal, Type 2U. Among its related pathways are Metabolism and One carbon pool by folate. GO annotations related to this gene include nucleotide binding and aminoacyl-tRNA ligase activity.

UniProtKB/Swiss-Prot for MARS Gene

  • Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.

Gene Wiki entry for MARS Gene

Additional gene information for MARS Gene

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

Genomics for MARS Gene

Regulatory Elements for MARS Gene

Enhancers for MARS 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
GH12H057242 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -232.3 -232251 2 PKNOX1 ATF1 ZNF2 BRCA1 GLIS2 GATA2 ZNF143 KLF7 ZNF548 RUNX3 BAZ2A NEMP1 CTDSP2 RN7SL809P CDK4 RNU6-343P STAT2 EEF1AKMT3 ARHGAP9 OS9
GH12H057238 1.4 ENCODE dbSUPER 9.8 -235.8 -235758 4 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 SP3 ZHX2 MXD4 STAT6 DTX3 NXPH4 ANKRD52 ENSG00000257740 NAB2 INHBE TSPAN31 MYO1A PAN2
GH12H057475 1.4 Ensembl ENCODE dbSUPER 9.5 +3.5 3451 6 HDGF TBL1XR1 RB1 NFRKB SIN3A RFX5 ZNF766 EGR1 ZNF143 ATF7 ARHGAP9 DCTN2 NEMP1 MARS ATP23
GH12H057245 1.2 ENCODE dbSUPER 9.8 -230.2 -230213 0 PKNOX1 ZNF2 ATF7 YY2 REST ZNF662 ZNF491 ZNF518A ZNF610 GLIS1 ENSG00000257740 DTX3 NEMP1 PAN2 LOC283387 ANKRD52 ENSG00000224713 NAB2 EEF1AKMT3 ZBTB39
GH12H057248 0.9 Ensembl ENCODE 9.8 -226.3 -226345 1 HDGF CTCF DPF2 ELF1 ZBTB40 GABPA TCF12 EGR1 TARDBP NBN ARHGAP9 NXPH4 INHBE MYO1A LRP1 STAT6 MARS ENSG00000224713 STAC3 GC12P057242
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MARS on UCSC Golden Path with GeneCards custom track

Promoters for MARS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000052669 1055 201 HDGF CTCF RB1 BACH1 SIN3A RFX5 POLR2A EED SMC3 ZNF143
ENSR00000268622 1755 801 MAZ ZBTB11 SIN3A REST ELF1 RFX5 ZNF589 EED IKZF1 NBN

Genomic Location for MARS Gene

Chromosome:
12
Start:
57,475,445 bp from pter
End:
57,517,569 bp from pter
Size:
42,125 bases
Orientation:
Plus strand

Genomic View for MARS Gene

Genes around MARS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MARS Gene

Proteins for MARS Gene

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

    Protein Symbol:
    P56192-SYMC_HUMAN
    Recommended name:
    Methionine--tRNA ligase, cytoplasmic
    Protein Accession:
    P56192
    Secondary Accessions:
    • B3KVK7
    • Q14895
    • Q53H14
    • Q96A15
    • Q96BZ0
    • Q9NSE0

    Protein attributes for MARS Gene

    Size:
    900 amino acids
    Molecular mass:
    101116 Da
    Quaternary structure:
    • Monomer (PubMed:11714285). Part of a multisubunit complex that groups tRNA ligases for Arg (RARS), Asp (DARS), Gln (QARS), Ile (IARS), Leu (LARS), Lys (KARS), Met (MARS) the bifunctional ligase for Glu and Pro (EPRS) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:19131329, PubMed:19289464, Ref.22, PubMed:26472928). Forms a linear complex that contains MARS, EEF1E1, EPRS and AIMP2 that is at the core of the multisubunit complex (PubMed:26472928).

    Three dimensional structures from OCA and Proteopedia for MARS Gene

    Alternative splice isoforms for MARS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MARS Gene

Selected DME Specific Peptides for MARS Gene

P56192:
  • NQWLEWEA
  • ITRDLKWG
  • CGKLINA
  • ARGDQCD
  • LLEKVRIRDALR
  • ISRHGNQYIQVNEPWK
  • RPEGQDSAFSW
  • TEYLNYEDGKFSKS
  • FDIFGRTT
  • LSADVFAR
  • EICDKYH
  • KVFYVWFDA
  • ALPYVNN
  • LITSALPY
  • KDNVPFH
  • GKFSKSRGVGVFG
  • SITANYTD

Post-translational modifications for MARS Gene

  • Ubiquitination at posLast=191191, posLast=375375, Lys500, posLast=663663, and Lys726
  • Modification sites at PhosphoSitePlus

Domains & Families for MARS Gene

Gene Families for MARS Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

P56192

UniProtKB/Swiss-Prot:

SYMC_HUMAN :
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with MARS: view

Function for MARS Gene

Molecular function for MARS Gene

GENATLAS Biochemistry:
methionine tRNA synthetase
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-methionine + tRNA(Met) = AMP + diphosphate + L-methionyl-tRNA(Met).
UniProtKB/Swiss-Prot EnzymeRegulation:
Enzyme activity is increased by spermidine, EEF1A1, and when the Mg(2+) concentration is increased from 5 mM to 13 mM (in vitro), possibly by promoting the dissociation of the complex between the enzyme and its product.
UniProtKB/Swiss-Prot Function:
Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.

Enzyme Numbers (IUBMB) for MARS Gene

Gene Ontology (GO) - Molecular Function for MARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA --
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004825 methionine-tRNA ligase activity IEA,TAS --
genes like me logo Genes that share ontologies with MARS: view
genes like me logo Genes that share phenotypes with MARS: view

Human Phenotype Ontology for MARS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MARS

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MARS
  • Applied Biological Materials Clones for MARS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for MARS Gene

Localization for MARS Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARS Gene

Cytoplasm, cytosol.

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 MARS gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 4
peroxisome 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA 10791971
GO:0005737 cytoplasm IDA 10791971
GO:0005829 cytosol IBA,TAS --
GO:0016020 membrane IDA 19946888
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex IDA,IEA 10791971
genes like me logo Genes that share ontologies with MARS: view

Pathways & Interactions for MARS Gene

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

Pathways by source for MARS Gene

SIGNOR curated interactions for MARS Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS,IEA --
GO:0006431 methionyl-tRNA aminoacylation IEA,IDA 11714285
GO:0009267 cellular response to starvation IDA 10791971
GO:0009303 rRNA transcription IMP 10791971
genes like me logo Genes that share ontologies with MARS: view

Drugs & Compounds for MARS Gene

(10) Drugs for MARS Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Methionine Approved Nutra Enzyme, substrate 0
Phosphoric acid Approved Pharma 0
Selenomethionine Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
ATP Nutra Agonist 0

(10) Additional Compounds for MARS Gene - From: Novoseek and HMDB

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 MARS: view

Transcripts for MARS Gene

Unigene Clusters for MARS Gene

Methionyl-tRNA synthetase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MARS
  • Applied Biological Materials Clones for MARS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - - - - - - - - - -
SP9: - - -
SP10:
SP11:
SP12: - - - - - - - - - - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

ExUns: 14b ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25a · 25b
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10: - - - - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for MARS Gene

GeneLoc Exon Structure for
MARS
ECgene alternative splicing isoforms for
MARS

Expression for MARS Gene

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

Protein differential expression in normal tissues from HIPED for MARS Gene

This gene is overexpressed in Bone (10.2) and Lymph node (6.5).

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



Protein tissue co-expression partners for MARS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MARS Gene:

MARS

SOURCE GeneReport for Unigene cluster for MARS Gene:

Hs.632707

Evidence on tissue expression from TISSUES for MARS Gene

  • Nervous system(5)
  • Muscle(4.9)
  • Intestine(4.8)
  • Liver(4.5)
  • Lung(3.8)
  • Skin(2.9)
  • Eye(2.3)
  • Kidney(2.3)
  • Stomach(2.3)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • epiglottis
  • head
  • larynx
  • neck
Thorax:
  • lung
Abdomen:
  • liver
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • shin
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with MARS: 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 MARS Gene

Orthologs for MARS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MARS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MARS 33 34
  • 99.7 (n)
cow
(Bos Taurus)
Mammalia MARS 33 34
  • 90.09 (n)
dog
(Canis familiaris)
Mammalia MARS 33 34
  • 89.98 (n)
rat
(Rattus norvegicus)
Mammalia Mars 33
  • 87.26 (n)
mouse
(Mus musculus)
Mammalia Mars 33 16 34
  • 86.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MARS 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves MARS 33 34
  • 66.89 (n)
lizard
(Anolis carolinensis)
Reptilia MARS 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mars 33
  • 66.63 (n)
Str.16107 33
African clawed frog
(Xenopus laevis)
Amphibia MGC69150 33
zebrafish
(Danio rerio)
Actinopterygii mars 33 34
  • 63.66 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007891 33
  • 55.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15100 33 34
  • 54.76 (n)
worm
(Caenorhabditis elegans)
Secernentea mrs-1 35
  • 60 (a)
mars-1 34
  • 40 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR332C 33
  • 55.44 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MES1 33 34 36
  • 53.97 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09647g 33
  • 52.25 (n)
rice
(Oryza sativa)
Liliopsida Os10g0400100 33
  • 58.23 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.795 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2777 34
  • 65 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU07451 33
  • 54.52 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rar1 33
  • 54.11 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.55 33
Species where no ortholog for MARS 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)
  • corn (Zea mays)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MARS Gene

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

Paralogs for MARS Gene

No data available for Paralogs for MARS Gene

Variants for MARS Gene

Sequence variations from dbSNP and Humsavar for MARS Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs140467171 Pathogenic, Interstitial lung and liver disease (ILLD) [MIM:615486] 57,500,337(+) ACATT(C/T)TCCAG nc-transcript-variant, reference, missense
rs141340466 Pathogenic, Interstitial lung and liver disease (ILLD) [MIM:615486] 57,500,406(+) ACTGT(A/G)CTCGC nc-transcript-variant, reference, missense
rs143592405 Pathogenic, Interstitial lung and liver disease (ILLD) [MIM:615486] 57,512,300(+) TTGCT(C/T)AGCCC intron-variant, upstream-variant-2KB, reference, missense
rs201555303 Pathogenic, Interstitial lung and liver disease (ILLD) [MIM:615486] 57,512,036(+) CACTA(C/T)TGGCT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs587777718 Pathogenic, Charcot-Marie-Tooth disease 2U (CMT2U) [MIM:616280] 57,512,849(+) TCTGG(C/T)GCTTC nc-transcript-variant, downstream-variant-500B, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv2651n54 CNV loss 21841781
esv1408918 CNV insertion 17803354
esv2759901 CNV gain 17122850
esv3419248 CNV duplication 20981092
nsv1071035 CNV deletion 25765185
nsv1144629 CNV deletion 24896259
nsv428283 CNV gain 18775914
nsv469411 CNV loss 19166990
nsv482992 CNV gain+loss 15286789
nsv559034 CNV loss 21841781
nsv819781 CNV loss 19587683

Variation tolerance for MARS Gene

Residual Variation Intolerance Score: 29.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MARS Gene

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

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

Disorders for MARS Gene

MalaCards: The human disease database

(9) MalaCards diseases for MARS Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
interstitial lung and liver disease
  • infantile liver failure syndrome 2
charcot-marie-tooth disease, axonal, type 2u
  • charcot-marie-tooth disease axonal type 2u
pulmonary alveolar proteinosis
autosomal recessive spastic paraplegia type 70
  • spg70
pulmonary surfactant metabolism dysfunction
  • pulmonary alveolar proteinosis
- elite association - COSMIC cancer census association via MalaCards
Search MARS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYMC_HUMAN
  • Charcot-Marie-Tooth disease 2U (CMT2U) [MIM:616280]: 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. CMT2U is a slowly progressive, autosomal dominant form characterized by late-adult onset. {ECO:0000269 PubMed:23729695, ECO:0000269 PubMed:24354524}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Interstitial lung and liver disease (ILLD) [MIM:615486]: An autosomal recessive, life-threatening disorder characterized by respiratory insufficiency and progressive liver disease with onset in infancy or early childhood. Clinical features include failure to thrive, hypotonia, intermittent lactic acidosis, aminoaciduria, hypothyroidism, interstitial lung disease, pulmonary alveolar proteinosis, anemia, and liver canalicular cholestasis, steatosis, and iron deposition. {ECO:0000269 PubMed:24103465, ECO:0000269 PubMed:25913036}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MARS

Genetic Association Database (GAD)
MARS
Human Genome Epidemiology (HuGE) Navigator
MARS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MARS
genes like me logo Genes that share disorders with MARS: view

No data available for Genatlas for MARS Gene

Publications for MARS Gene

  1. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G … Gleeson JG (Science (New York, N.Y.) 2014) 2 3 4 60
  2. Dissection of the structural organization of the aminoacyl-tRNA synthetase complex. (PMID: 19131329) Kaminska M … Mirande M (The Journal of biological chemistry 2009) 3 4 22 60
  3. The appended C-domain of human methionyl-tRNA synthetase has a tRNA-sequestering function. (PMID: 11714285) Kaminska M … Mirande M (Biochemistry 2001) 3 4 22 60
  4. CHOP/GADD153 and methionyl-tRNA synthetase (MetRS) genes overlap in a conserved region that controls mRNA stability. (PMID: 10448063) Ubeda M … Habener JF (Biochemical and biophysical research communications 1999) 2 3 22 60
  5. Cloning of a human cDNA encoding a protein with high homology to yeast methionyl-tRNA synthetase. (PMID: 8921912) Lage H … Dietel M (Gene 1996) 3 4 22 60

Products for MARS Gene

  • Addgene plasmids for MARS

Sources for MARS Gene

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