background:
With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and β thalassemia are caused by HBB gene mutations. Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11. The FAM76B gene product has been provisionally designated FAM76B pending further characterization.
Subcellular Location:
Nucleus speckle.
Post-translational modifications:
Isoform 2 is ubiquitinated at Lys-225.
Phosphorylated upon DNA damage, probably by ATM or ATR.
Similarity:
Belongs to the FAM76 family.
Database links:
Entrez Gene: 143684 Human
Entrez Gene: 72826 Mouse
Entrez Gene: 367021 Rat
SwissProt: Q5HYJ3 Human
SwissProt: Q80XP8 Mouse
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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