AZI1 is a 1,083 amino acid protein that may play a role in spermatogenesis. AZI1 is most highly expressed in spinal cord, followed by testis, ovary, amygdala, cerebellum and thalamus. Low expression is present in other adult and fetal tissues and specific adult brain regions. AZl1 gene transcription begins in pachytene spermatocytes and expression of the gene is induced in cultivated fibroblasts on treatment with 5-azacytidine, which is known to lead to the demethylation of genomic DNA. The AZI1 gene is conserved in dog, cow, mouse, rat, chicken, and zebrafish, and exists as two alternatively spliced isoforms. AZI1 contains one IQ domain, and the gene that encodes it maps to human chromosome 17q25.3. Chromosome 17 makes up over 2.5% of the human genome with about 81 million bases encoding over 1,200 genes. Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease are also associated with chromosome 17.