S5A2 Polyclonal Antibody, 100ul Antibody Humanization Mutations in this gene result

Mutations in this gene result in colobomata

miscellaneous:'Reprimo' signifies stop/repress

q13) involving this gene has been associated with Duane retraction syndrome

Alternatively spliced transcript variants encoding multiple isoforms have been observed for DHPS

S5A2 Polyclonal Antibody, 100ul Antibody Humanization Mutations in this gene resultThis gene encodes a microsomal protein expressed at high levels in androgen sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4 azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH).