ARL4A
Description
The ARL4A (ADP ribosylation factor like GTPase 4A) is a protein-coding gene located on chromosome 7.
ARL4A, encoded by the ARL4A gene, is a member of the ADP-ribosylation factor family of GTP-binding proteins. It shares similarities with ARL4C and ARL4D, including a nuclear localization signal and a high guanine nucleotide exchange rate. ARL4A resides in both the nucleus and extranuclear compartments of cells. Multiple transcript variants encoding the same protein have been identified for this gene. ARL4A has been shown to interact with Karyopherin alpha 2.
ARL4A is a small GTP-binding protein that switches between an inactive GDP-bound state and an active GTP-bound state. This cycling is controlled by guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs). Unlike some other GTP-binding proteins, ARL4A does not activate the catalytic subunit of cholera toxin. In its GDP-bound form, ARL4A recruits CYTH1, CYTH2, CYTH3, and CYTH4 to the plasma membrane.
ARL4A is also known as ARL4.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- spermatogenic failure 25
- spermatogenic failures 50
- spermatogenic failure 48
- spermatogenic failure, X-linked, 2
- congenital bilateral absence of vas deferens
- spermatogenic failure 63
- spermatogenic failure 1
- spermatogenic failure 8
- spermatogenic failure 73
- spermatogenic failure 74
