Anticorps HYLS1 (E-3): sc-398834

The hydrolethalus syndrome protein 1 (HYLS1) is a widely conserved protein that plays an essential role in cilia formation. A single amino acid mutation in the HYLS1 gene leads to a perinatal lethal disorder termed hydrolethalus syndrome, a severe fetal malformation syndrome characterized by central nervous system (CNS) malformation such as hydrocephaly and absent midline structures of the brain, micrognathia, defective lobation of the lungs and polydactyly. The gene encoding HYLS1 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.

L'anticorps HYLS1 préféré est l'Anticorps HYLS1 (F-12): sc-393492.