SPATA6 is a 488 amino acid secreted protein that may be involved in spermatid maturation or sperm function. SPATA6 is expressed during embryonic development and is localized in neural tube, somites and limb buds of mouse embryo. Existing as two isoforms produced by alternative splicing events, the gene encoding SPATA6 maps to mouse chromosome 4 and human chromosome 1. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. Chromosome 1 houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome. Aberrations in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma.