基因名称(Gene Name)
DIAPH2 DIA
免疫原
Synthesized peptide derived from human DIAP2
特异性
This antibody detects endogenous levels of human DIAP2
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
其他名称
Protein diaphanous homolog 2 (Diaphanous-related formin-2;DRF2)
背景
The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008],
功能
developmental stage:Expressed from E16 in ovary and testis and during P6-P16 during differentiation of ovarian follicles.,disease:Defects in DIAPH2 are a cause of premature ovarian failure 2 (POF2) [MIM:300511]. Premature ovarian failure (POF) is a defect of ovarian development and is characterized by hypoestrogenism, primary or secondary amenorrhea, with elevated levels of serum gonadotropins, or by early menopause. POF is defined as the cessation of ovarian function under the age of 40 years. The disorder has been attributed to various causes, including rearrangements of a large "critical region" in the long arm of the X chromosome.,domain:DRFs are regulated by intramolecular GBD-DAD binding where Rho-GTP activates the DRFs by disrupting the GBD-DAD interaction.,function:Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel signal transd
