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PACS1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PACS1 gene

The PACS1 gene provides instructions for a protein that acts as a sorting mechanism for molecules within the cell during development.

Normal Function

The PACS1 gene provides instructions for making a protein called phosphofurin acidic cluster sorting protein 1 (PACS1). This protein is found in a complex network of membranes known as the trans-Golgi network, which sorts proteins and other molecules and sends them to their intended destinations inside or outside the cell. The PACS1 protein is most active during development before birth.

Health Conditions Related to Genetic Changes

PACS1 syndrome

At least two mutations in the PACS1 gene have been found to cause PACS1 syndrome. This condition is characterized by intellectual disability, speech and language problems, and a distinct facial appearance.

  • The most common mutation, occurring in nearly everyone with the syndrome, replaces the amino acid arginine with tryptophan at position 203 (Arg203Trp or R203W).
  • PACS1 gene mutations are thought to impair the protein's ability to aid in the transport of molecules and proteins.
  • This impairment results in the accumulation or misplacement of substances within cells, which may interfere with the function of the protein produced from the normal copy of the gene.
  • Impaired PACS1 protein function is believed to disrupt the normal development of facial structures and other body systems.

Other Names for This Gene

  • cytosolic sorting protein PACS-1, human
  • FLJ10209
  • KIAA1175
  • PACS-1
  • phosphofurin acidic cluster sorting protein 1, human

Frequently Asked Questions

PACS1 syndrome is caused by a de novo heterozygous missense mutation in the vast majority of cases, meaning the risk of recurrence in siblings is low (<1 %). However, rare familial cases with germline mosaicism have been reported. Genetic counseling should discuss the low recurrence risk, the option of prenatal ultrasound for structural anomalies, and, if desired, targeted prenatal sequencing for the known PACS1 variant.
The diagnostic gold standard is molecular genetic testing that identifies the recurrent c.607C>T (p.Arg203Trp) mutation or other pathogenic variants in the PACS1 gene. Chromosomal microarray may be normal, so targeted sequencing or a multigene panel for neurodevelopmental disorders is recommended when the clinical picture suggests PACS1 syndrome.
Children often show delayed speech acquisition (few words by age 2), limited expressive language, and motor milestones such as sitting or walking may be achieved 3–6 months later than peers. Cognitive delays become evident by preschool age, with most children requiring individualized education plans.
Early intervention is critical. Speech‑language therapy focusing on augmentative and alternative communication (AAC) devices, along with intensive oral‑motor exercises, can enhance expressive abilities. Some clinicians also trial low‑dose gabapentin or selective serotonin reuptake inhibitors to address associated anxiety that may impede communication, but evidence is anecdotal and should be individualized.
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.

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