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Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins.. Additionally we are shipping MACROD2 Antibodies (3) and MACROD2 Kits (1) and many more products for this protein.
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In patients with Graves' disease, a common genetic variant in MACROD2 may increase susceptibility for thyroid-associated orbitopathy.
ATM (show ATM Proteins) induces MacroD2 nuclear export upon DNA damage.
MACROD2 gene is a strong positional candidate risk factor for autistic-like traits in the general population
MACROD2 is a key mediator of estrogen independent growth and tamoxifen resistance
this study does not provide support for the reported association between rs4141463, within the MACROD2 gene and autism.
An analysis of 1 million single-nucleotide polymorphisms found a possible commonality for autism in the allele at rs4141463 located in MACROD2.
A 250 kb de novo microdeletion at 20p12.1, deleting exon 5 of C20orf133, was seen in a Kabuki syndrome case. The de novo deletion, the expression data & the fact that C20orf133 has a macro domain make it a likely candidate to cause KS in this patient.
Authors describe the results of a deletion assay for the exon 5 in C20orf133 and a mutation analysis of C20orf133 and FLRT3 (show FLRT3 Proteins) in patients with Kabuki Syndrome.
Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins.
MACRO domain-containing protein 2
, O-acetyl-ADP-ribose deacetylase MACROD2
, [Protein ADP-ribosylglutamate] hydrolase
, MACRO domain containing 2