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RAPSN gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RAPSN gene

The RAPSN gene provides instructions for making the rapsyn protein, which is essential for anchoring acetylcholine receptors at the neuromuscular junction to facilitate muscle movement.

Normal Function

The RAPSN gene provides instructions for making a protein called rapsyn that attaches (binds) to the different parts (subunits) of a protein found in the muscle cell membrane called acetylcholine receptor (AChR). This binding helps keep the receptor subunits together and anchors the AChR protein in the muscle cell membrane.

The AChR protein plays a critical role in the normal function of the neuromuscular junction. The neuromuscular junction is the area between the ends of nerve cells and muscle cells where signals are relayed to trigger muscle movement.

Health Conditions Related to Genetic Changes

Congenital myasthenic syndromes

RAPSN gene mutations are associated with congenital myasthenic syndromes.

Multiple pterygium syndrome

RAPSN gene mutations are associated with multiple pterygium syndrome.

Other Names for This Gene

  • RAPSN_HUMAN
  • RAPSYN
  • receptor-associated protein of the synapse
  • RING finger protein 205
  • RNF205

Genomic Location

The RAPSN gene is found on chromosome 11.

Frequently Asked Questions

Newborns who show generalized hypotonia, feeding difficulties, weak cry, or episodic respiratory distress that improve with brief rest may have a congenital myasthenic syndrome. If these signs are present, clinicians often order electrophysiology (repetitive nerve stimulation) and a RAPSN‑focused genetic panel.
First‑line therapy includes acetylcholinesterase inhibitors such as pyridostigmine, which increase acetylcholine at the neuromuscular junction. If weakness persists, 3,4‑diaminopyridine or beta‑2 agonists can be added. Physical therapy and respiratory support during crises are also important.
Yes. When a pathogenic RAPSN variant is identified in a parent or previous child, targeted prenatal testing can be performed via chorionic villus sampling (10‑12 weeks) or amniocentesis (15‑18 weeks). Pre‑implantation genetic testing is another option for couples undergoing IVF.
Prognosis varies widely. Severe joint contractures and respiratory muscle weakness can limit mobility and may require surgical release or ventilatory support. With early multidisciplinary care—including orthopedics, pulmonology, and speech therapy—many children achieve functional independence, although some may have lifelong motor limitations.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.