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Key Documents

SAB1400604

Sigma-Aldrich

Anti-DARS2 antibody produced in mouse

IgG fraction of antiserum, buffered aqueous solution

Synonym(s):

Anti-FLJ10514, Anti-RP3-383J4.2

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About This Item

UNSPSC Code:
12352203
NACRES:
NA.41

biological source

mouse

Quality Level

100

conjugate

unconjugated

antibody form

IgG fraction of antiserum

antibody product type

primary antibodies

clone

polyclonal

form

buffered aqueous solution

species reactivity

human

technique(s)

western blot: 1 μg/mL

UniProt accession no.

Q6PI48

shipped in

dry ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... DARS2(55157)

General description

Aspartyl-tRNA synthetase 2, mitochondrial (DARS2) is a homodimeric enzyme. The gene encoding it is localized on human chromosome 1q25.1.

Immunogen

DARS2 (NP_060592.2, 1 a.a. ~ 645 a.a) full-length human protein.

Sequence
MYFPSWLSQLYRGLSRPIRRTTQPIWGSLYRSLLQSSQRRIPEFSSFVVRTNTCGELRSSHLGQEVTLCGWIQYRRQNTFLVLRDFDGLVQVIIPQDESAASVKKILCEAPVESVVQVSGTVISRPAGQENPKMPTGEIEIKVKTAELLNACKKLPFEIKNFVKKTEALRLQYRYLDLRSFQMQYNLRLRSQMVMKMREYLCNLHGFVDIETPTLFKRTPGGAKEFLVPSREPGKFYSLPQSPQQFKQLLMVGGLDRYFQVARCYRDEGSRPDRQPEFTQIDIEMSFVDQTGIQSLIEGLLQYSWPNDKDPVVVPFPTMTFAEVLATYGTDKPDTRFGMKIIDISDVFRNTEIGFLQDALSKPHGTVKAICIPEGAKYLKRKDIESIRNFAADHFNQEILPVFLNANRNWNSPVANFIMESQRLELIRLMETQEEDVVLLTAGEHNKACSLLGKLRLECADLLETRGVVLRDPTLFSFLWVVDFPLFLPKEENPRELESAHHPFTAPHPSDIHLLYTEPKKARSQHYDLVLNGNEIGGGSIRIHNAELQRYILATLLKEDVKMLSHLLQALDYGAPPHGGIALGLDRLICLVTGSPSIRDVIAFPKSFRGHDLMSNTPDSVPPEELKPYHIRVSKPTDSKAERAH

Biochem/physiol Actions

Aspartyl-tRNA synthetase 2, mitochondrial (DARS2) has a crucial role in the attachment of aspartate to the right mitochondrial transfer RNA. Mutations in the gene encoding it have been associated with leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL).

Features and Benefits

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Physical form

Solution in phosphate buffered saline, pH 7.4

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Storage Class Code

10 - Combustible liquids

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable

Certificates of Analysis (COA)

Search for Certificates of Analysis (COA) by entering the products Lot/Batch Number. Lot and Batch Numbers can be found on a product’s label following the words ‘Lot’ or ‘Batch’.

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A novel homozygous mutation of DARS2 may cause a severe LBSL variant.
Miyake N
Clinical Genetics, 80(3), 293-296 (2011)
Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways.
van Berge L
The Biochemical Journal, 450(2), 345-350 (2013)
DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.
Wolf NI, et.l
Neurology, 84(3), 226-230 (2015)
Laura van Berge et al.
Brain : a journal of neurology, 137(Pt 4), 1019-1029 (2014-02-26)
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation is a disorder caused by recessive mutations in the gene DARS2, which encodes mitochondrial aspartyl-tRNA synthetase. Recent observations indicate that the phenotypic range of the disease is much wider than

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