ARL2BP

Disease Category: autosomal recessive
Patient Population: —
Clinical Trials: None found
Institution(s) Conducting Research: Transgenic Core at West Virginia University

Where things stand · Clinical trials

Studies that may be relevant to review

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Brief description

A clear, everyday-language overview of this gene.

Mutations in ARL2 binding protein (ARL2BP) can cause autosomal-recessive retinitis pigmentosa (RP). ARL2BP is a protein that's linked to ciliary defects, which can lead to blinding diseases like RP. ADP-ribosylation factor-like 2 (ARL2) is a protein that's associated with the formation of the outer segment (OS) of cells. ARL2 is thought to be important for recruiting or anchoring ARL2BP at the base of the cilium. ARL2BP is an effector of small GTPases ARL2 and ARL3. In the mouse retina, ARL2BP is found in the basal body, cilium-associated centriole, and periciliary extension of the inner segment. Mutations in ARL2BP can also cause situs inversus, a condition where organs are reversed.

Support, accessibility and family guidance(the same for every gene)

This guidance applies to anyone living with an inherited retinal condition, whichever gene is involved. Anything specific to this gene is in the section above.

Ask before helping: People differ widely in what assistance they want, and it changes by task and by day. Asking first respects that, and avoids help that gets in the way.
Low-vision rehabilitation: Low-vision specialists work on practical skills and tools for the sight someone has — lighting, contrast, magnification, orientation and mobility.
Accessible technology: Screen readers, magnification, high-contrast modes and voice control are built into phones and computers. Small settings changes often help sooner than new equipment.
School and work: Accommodations are often available well before vision loss is severe. Starting the conversation early usually makes it easier.
Emotional and community support: A genetic result affects the whole family. Connecting with others living with RP helps people feel less alone with it.
Genetic counselling: A genetic counsellor can explain what a result means for relatives, and what testing options exist, without anyone being pushed into a decision.

Last reviewed: not yet reviewedReviewer: —

Medical disclaimer: This page is for education and navigation only — not medical advice, diagnosis, or treatment. These summaries are paraphrases of published research; always confirm details with a qualified clinician and primary sources.