ARL4D


Description

The ARL4D (ADP ribosylation factor like GTPase 4D) is a protein-coding gene located on chromosome 17.

ADP-ribosylation factor-like protein 4D is a protein that in humans is encoded by the ARL4D gene. ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet–Biedl syndrome (BBS).

ARL4D is a small GTP-binding protein that cycles between an inactive GDP-bound state and an active GTP-bound state. This cycling is regulated by guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs). ARL4D does not activate the cholera toxin catalytic subunit. When bound to GDP, ARL4D recruits CYTH1, CYTH2, CYTH3, and CYTH4 to the plasma membrane.

ARL4D is also known as ARF4L.

Associated Diseases



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