S5A2 Polyclonal Antibody, 100ul Antibody Humanization q13) involving this gene has

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

Mutations in this gene result in colobomata

This kinase contains a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryotic translation initiation factor 4B (eIF4B)

Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia

S5A2 Polyclonal Antibody, 100ul Antibody Humanization q13) involving this gene hasThis 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).