FAM168A is a 244 amino acid protein that exists as three alternatively spliced isoforms and is encoded by a gene that maps to human chromosome 11, which 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 ∫ 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.
Similarity:
Belongs to the UPF0518 family.
SWISS:
Q5W0V3
Gene ID:
57700
Database links:
Entrez Gene: 57700 Human
Entrez Gene: 226252 Mouse
SwissProt: Q5W0V3 Human
SwissProt: Q8CDM8 Mouse
Unigene: 192619 Human
Unigene: 358870 Mouse
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