We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
A majority of cancers displayed moderate cytoplasmic positivity. Several cases of malignant melanomas, colorectal and ovarian cancers along with a few cases of malignant lymphomas, lung, breast, endometrial and prostate cancers exhibited strong immunoreactivity. Several cases of liver, pancreatic, renal and urothelial cancers were weakly stained or negative.
The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)