Rab4b-egln2 readthrough (nmd candidate)
Rab4b-egln2 readthrough (nmd candidate) is a protein that in humans is encoded by the RAB4B-EGLN2 gene. This gene is a readthrough candidate, where an overlapping nuclear transcription event between the upstream gene for RAB4B and the downstream gene for EGLN2 results in a fusion protein.
Function[edit | edit source]
The RAB4B-EGLN2 gene is a member of the RAS oncogene family. The RAS oncogene family is a class of genes that are commonly mutated in cancers. The protein encoded by this gene is a small GTPase that regulates intracellular membrane trafficking in the late endocytic pathway.
The EGLN2 gene encodes a member of the hypoxia-inducible factor (HIF) hydroxylase family. The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in HIF alpha proteins.
Clinical significance[edit | edit source]
Mutations in the RAB4B-EGLN2 gene have been associated with various types of cancer, including lung cancer and breast cancer. The protein encoded by this gene may play a role in tumor growth and progression.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD