| Modification Notes |
SPATA8 (spermatogenesis-associated protein 8) is a 105 amino acid protein that exists as two alternatively spliced isoforms. While highly expressed in adult testis, SPATA8 is expressed at lower levels in fetal testis and sperm. The gene that encodes SPATA8 consists of over 2,000 bases and maps to human chromosome 15q26.2. Housing approximately 106 million base pairs and encoding more than 700 genes, chromosome 15 makes up about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene. |