HMBOX1 is a 420 amino acid nuclear protein that contains one homeobox DNA-binding domain and is thought to function as a putative transcription factor. HMBOX1 is expressed as three alternatively spliced isoforms and is encoded by a gene which maps to human chromosome 8. Consisting of nearly 146 million base pairs, chromosome 8 encodes over 800 genes and is associated with a variety of diseases and malignancies. Schizophrenia, bipolar disorder, Trisomy 8, Pfeiffer syndrome, congenital hypothyroidism, Waardenburg syndrome and some leukemias and lymphomas are thought to occur as a result of defects in specific genes that maps to chromosome 8.