Description
Product Characteristics:
C11orf46, also known as FLJ38968 or dJ299F11.1, is a 260 amino acid protein that is encoded by a gene located on human chromosome 11. 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 _ 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.
Synonyms: Chromosome 11 open reading frame 46, DJ299F11.1, FLJ38968, Hypothetical protein LOC120534, Uncharacterized protein C11orf46, AL14E_HUMAN.
Target Information: Through its interaction ARL14 and MYO1E, may connect MHC class II-containing cytoplasmic vesicles to the actin network and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells (By similarity)