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Rabbit Anti-NSUN5/FITC Conjugated antibody
background:
This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Function:
May have S-adenosyl-L-methionine-dependent methyl-transferase activity.
Tissue Specificity:
Ubiquitous. Detected in placenta, heart and skeletal muscle.
Post-translational modifications:
Isoform 2 is phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE:
Note=NSUN5 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
Similarity:
Belongs to the methyltransferase superfamily. RsmB/NOP family.
Database links:
Entrez Gene: 55695 Human
SwissProt: Q96P11 Human
Unigene: 647060 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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