The ASS1/SMAD6 FISH Probe Kit is designed to detect the human ASS1 gene located on chromosome band 9q34.11, and the SMAD6 gene on chromosome band 15q22.31.
Abnormal expression of the ASS1 gene – also called ASS or CTLN1 – occur in citrullinemia type I (CTLN1), also known as classic citrullinemia.
Abnormalities in SMAD6 – also known as AOVD2, MADH6, MADH7 or HsT17432 – are associated with cardiac valve defects and developmental deficiencies.
SMAD6 expression has been reported to promote cell survival in lung cancer and other tumor types.