Description
Product Characteristics:
C11orf74, also known as FLJ38678, is a 123 amino acid protein that exists as two alternatively spliced isoforms and 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 74, FLJ38678, HEPIS, Hypothetical protein LOC119710, Protein HEPIS, CK074_HUMAN.
Target Information: This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]