The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/10000 - 1/50000. Detects a band of approximately 87 kDa (predicted molecular weight: 87 kDa).
Acts as a RAC1 guanine nucleotide exchange factor (GEF).
Involvement in disease
Defects in ARHGEF6 are the cause of mental retardation X-linked type 46 (MRX46) [MIM:300436]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.
Immunohistochemical analysis of paraffin-embedded Human transitional cell carcinoma of bladder tissue labeling ARHGEF6 with ab184569 at 1/50 dilution followed by prediluted HRP Polymer for Rabbit IgG. Counter stained with Hematoxylin.