The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/1000. Detects a band of approximately 135 kDa (predicted molecular weight: 126 kDa).
Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel signal transduction pathway, in which isoform 3 and CSK are sequentially activated by RHOD to regulate the motility of early endosomes through interactions with the actin cytoskeleton.
Expressed in testis, ovary, small intestine, prostate, lung, liver, kidney and leukocytes.
Involvement in disease
Defects in DIAPH2 are the cause of premature ovarian failure type 2A (POF2A) [MIM:300511]. An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.