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HPA015006

Sigma-Aldrich

Anti-MTHFD1 antibody produced in rabbit

Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution

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Synonym(s):
Anti-C1-THF synthase antibody produced in rabbit, Anti-C1-Tetrahydrofolate synthase, cytoplasmic antibody produced in rabbit
Human Protein Atlas Number:

biological source

rabbit

conjugate

unconjugated

antibody form

affinity isolated antibody

antibody product type

primary antibodies

clone

polyclonal

product line

Prestige Antibodies® Powered by Atlas Antibodies

form

buffered aqueous glycerol solution

species reactivity

human, mouse, rat

technique(s)

immunoblotting: 0.04-0.4 μg/mL
immunohistochemistry: 1:200-1:500

immunogen sequence

AANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSK

UniProt accession no.

shipped in

wet ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... MTHFD1(4522)

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This Item
HPA000704SAB2101519HPA001290
conjugate

unconjugated

conjugate

unconjugated

conjugate

unconjugated

conjugate

unconjugated

antibody form

affinity isolated antibody

antibody form

affinity isolated antibody

antibody form

affinity isolated antibody

antibody form

affinity isolated antibody

clone

polyclonal

clone

polyclonal

clone

polyclonal

clone

polyclonal

product line

Prestige Antibodies® Powered by Atlas Antibodies

product line

Prestige Antibodies® Powered by Atlas Antibodies

product line

-

product line

Prestige Antibodies® Powered by Atlas Antibodies

form

buffered aqueous glycerol solution

form

buffered aqueous glycerol solution

form

buffered aqueous solution

form

buffered aqueous glycerol solution

General description

MTHFD1 (methylenetetrahydrofolate dehydrogenase 1) is a trifunctional enzyme, which has the 5,10-methenylTHF cyclohydrolase and dehydrogenase active site at its N-terminal. Its 10-formylTHF synthetase domain is present at the C-terminal. This gene is localized to human chromosome 14q23.3, is 71kb in size and contains 28 exons.

Immunogen

C-1-tetrahydrofolate synthase, cytoplasmic recombinant protein epitope signature tag (PrEST)

Application

All Prestige Antibodies Powered by Atlas Antibodies are developed and validated by the Human Protein Atlas (HPA) project and as a result, are supported by the most extensive characterization in the industry.

The Human Protein Atlas project can be subdivided into three efforts: Human Tissue Atlas, Cancer Atlas, and Human Cell Atlas. The antibodies that have been generated in support of the Tissue and Cancer Atlas projects have been tested by immunohistochemistry against hundreds of normal and disease tissues and through the recent efforts of the Human Cell Atlas project, many have been characterized by immunofluorescence to map the human proteome not only at the tissue level but now at the subcellular level. These images and the collection of this vast data set can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. We also provide Prestige Antibodies® protocols and other useful information.

Biochem/physiol Actions

MTHFD1 (methylenetetrahydrofolate dehydrogenase 1) resides in the nucleus, where it plays an essential role in the de novo synthesis of dTMP (thymidine monophosphate). It acts as three different enzymes namely, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Inactivation of this gene results in hemolytic uremic syndrome (HUS), megaloblastic anaemia, hyperhomocysteinemia, and severe combined immunodeficiency. Studies in South Indian population show that 1958G>A variant in this gene is associated with nonsyndromic cleft lip and palate (NSCLP). It is also linked to congential abnormalities due to aberrant folate metabolism such as, defects in neural tube and cardiac defects.

Features and Benefits

Prestige Antibodies® are highly characterized and extensively validated antibodies with the added benefit of all available characterization data for each target being accessible via the Human Protein Atlas portal linked just below the product name at the top of this page. The uniqueness and low cross-reactivity of the Prestige Antibodies® to other proteins are due to a thorough selection of antigen regions, affinity purification, and stringent selection. Prestige antigen controls are available for every corresponding Prestige Antibody and can be found in the linkage section.

Every Prestige Antibody is tested in the following ways:
  • IHC tissue array of 44 normal human tissues and 20 of the most common cancer type tissues.
  • Protein array of 364 human recombinant protein fragments.

Linkage

Corresponding Antigen APREST70421.

Physical form

Solution in phosphate-buffered saline, pH 7.2, containing 40% glycerol and 0.02% sodium azide

Legal Information

Prestige Antibodies is a registered trademark of Merck KGaA, Darmstadt, Germany

Disclaimer

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

Storage Class Code

10 - Combustible liquids

WGK

WGK 1

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable

Personal Protective Equipment

dust mask type N95 (US), Eyeshields, Gloves

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Jyotsna Murthy et al.
Medicina oral, patologia oral y cirugia bucal, 19(6), e616-e621 (2014-08-19)
Nonsyndromic cleft lip and palate (NSCLP) is genetically distinct from those with syndromic clefts, and accounts for ~70% of cases with Oral clefts. Folate, or vitamin B9, is an essential nutrient in our diet. Allelic variants in genes involved in
P Burda et al.
Journal of inherited metabolic disease, 38(5), 863-872 (2015-01-31)
In the folate cycle MTHFD1, encoded by MTHFD1, is a trifunctional enzyme containing 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase activity. To date, only one patient with MTHFD1 deficiency, presenting with hyperhomocysteinemia, megaloblastic anaemia, hemolytic uremic syndrome (HUS) and severe
Martha S Field et al.
Proceedings of the National Academy of Sciences of the United States of America, 112(2), 400-405 (2014-12-31)
An inborn error of metabolism associated with mutations in the human methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) gene has been identified. The proband presented with SCID, megaloblastic anemia, and neurologic abnormalities, but the causal metabolic impairment is unknown. SCID has been associated

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