Nolz 1 is a 646 amino acid nuclear protein that is thought to function as a transcriptional repressor and is highly expressed in developing striatum. Additionally, Nolz-1 has been suggested to play a role in neural differentiation. A member of the Elbow/Noc family, Nolz-1 exists as three alternatively spliced isoforms and contains one C2H2-type zinc finger. The gene encoding Nolz-1 maps to human chromosome 10, which makes up approximately 4.5% of total DNA in cells and encodes nearly 1,200 genes. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman?s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.
