| Modification Notes |
Hinderin is also known as KIAA1328 and is a 577 amino acid protein that exists as four isoforms produced by alternative splicing. In human tissues, Hinderin is ubiquitously expressed. Hinderin has five domains, including coiled-coil motifs that bind to SMC3 which may affect the ability of SMC3 to aid in the formation of multimeric protein complexes. The gene encoding Hinderin maps to human chromosome 18, which houses over 300 protein-coding genes and contains nearly 76 million bases. There are a variety of diseases associated with defects in chromosome 18-localized genes, some of which include Trisomy 18 (also known as Edwards syndrome), Niemann-Pick disease, hereditary hemorrhagic telangiectasia, erythropoietic protoporphyria and follicular lymphomas. Deletions affecting human chromosome location 18q12.2 may cause mild dysmorphic features, mental retardation, or behavior abnormalities. |