Background information
HkRP3, also known as CCDC88B (coiled-coil domain-containing protein 88B) or BRLZ (brain leucine zipper domain-containing protein), is a 1,476 amino acid protein that belongs to the CCDC88 family. Members of the hook-related protein family are characterized by the presence of a C-terminal hook-related domain and an N-terminal potential microtubule binding domain. HkRP3 may be involved in the linkage of various organelles to microtubules, and exists as six alternatively spliced isoforms. The gene encoding HkRP3 maps to human chromosome 11q13.1 and mouse chromosome 19 A. Chromosome 11 houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that maps to chromosome 11.
