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PYCR1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PYCR1 gene

The PYCR1 gene is responsible for producing a protein that supports mitochondrial function and the synthesis of the amino acid proline.

Normal Function

The PYCR1 gene provides instructions for making a protein located in the energy-producing structures of cells, called mitochondria. The PYCR1 protein is important for mitochondrial function and helps in the formation (synthesis) of the amino acid proline. The conversion between proline and glutamate is essential for maintaining a supply of amino acids for protein production and for energy transfer within the cell.

Health Conditions Related to Genetic Changes

Cutis laxa

PYCR1 gene variants have been identified in people with cutis laxa, specifically a form called autosomal recessive cutis laxa type 2B (ARCL2B). Some researchers also classify severe cases as autosomal recessive cutis laxa type 3B (ARCL3B), also known as de Barsy syndrome. Features include:

  • Loose, wrinkled, sagging skin (often described as parchment-like)
  • Prominent veins
  • Distinctive facial features
  • Larger than normal spaces (fontanelles) between skull bones that close late
  • Delayed development, intellectual disability, or bone abnormalities

These variants prevent the production of functional PYCR1 protein, impairing mitochondrial function and leading to increased cell death, particularly in skin and nerve cells.

Other Names for This Gene

  • P5C

Frequently Asked Questions

How is autosomal recessive cutis laxa type 2B (ARCL2B) or de Barsy syndrome diagnosed?::Diagnosis typically involves a clinical evaluation based on the characteristic physical features. Genetic testing to identify specific mutations in the PYCR1 gene is crucial for confirming the diagnosis. Imaging studies may also be used to assess bone abnormalities or other internal features.
What kind of ongoing medical management and support are typically required for individuals with PYCR1-related cutis laxa?::Management is supportive and multidisciplinary, focusing on addressing specific symptoms. This may include dermatological care for skin issues, physical and occupational therapy for developmental delays, speech therapy, and educational support. Regular monitoring for potential complications, such as bone abnormalities or neurological issues, is also important. A team of specialists, including geneticists, dermatologists, neurologists, and developmental pediatricians, usually provides care.
What are the most noticeable features of cutis laxa caused by PYCR1 gene mutations, especially in infants or young children?::In infants and young children, the most noticeable features include loose, wrinkled, and sagging skin, often described as parchment-like, particularly on the face and abdomen. Other common signs are prominent veins visible through the thin skin, distinctive facial features, and larger than normal spaces between skull bones (fontanelles) that close later than usual. Developmental delays and intellectual disability can also be present.
Is PYCR1-related cutis laxa an inherited condition, and what does that mean for family planning?::Yes, PYCR1-related cutis laxa (ARCL2B/ARCL3B) is inherited in an autosomal recessive pattern. This means a child must inherit two copies of the mutated PYCR1 gene (one from each parent) to develop the condition. If both parents are carriers, there is a 25% chance with each pregnancy that their child will be affected. Genetic counseling is highly recommended for families to understand the inheritance pattern, assess risks, and discuss family planning options.
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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