Acyl Coenzyme A Synthetase Medium Chain Family, Member 3 (ACSM3)

By Southern analysis of somatic cell hybrids, Szpirer et al. (1993) independently assigned the Sa gene to rat chromosome 1 and showed that the human homolog, SAH, resides on chromosome 16. the deduced amino acid sequence from the isolated human SAH cDNA consisted of 578 amino acid residues and had slight homology to a bacterial enzyme, acetyl-CoA synthase. With the restriction enzyme PstI, they found a RFLP in the SAH gene and compared allele frequencies between hypertensive and control groups. The hypertensive group consisted of 89 persons, and the PstI rare allele (allele A2) frequency in this group was 0.270. The control group consisted of 81 healthy normotensive persons, among whom the A2 allele frequency was 0.09. The differences were significant at the P = 0.0001 level.