HomeGeneticsGeneCOL6A1 gene
Back to Gene
COL6A1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

COL6A1 gene

The COL6A1 gene provides instructions for creating a vital component of type VI collagen, a protein essential for the structural integrity of muscles and connective tissues.

Normal Function

The COL6A1 gene provides instructions for making one component of type VI collagen, which is a flexible protein found in the space that surrounds cells. Specifically, the protein produced from the COL6A1 gene is the alpha(α)1(VI) chain of type VI collagen. This chain combines with chains produced from other genes to produce a complete type VI collagen molecule.

Collagens are found in the extracellular matrix, which is an intricate lattice that forms in the space between cells and provides structural support. Type VI collagen is located in the extracellular matrix surrounding cells that make up the muscles used for movement (skeletal muscle cells) and cells that make up connective tissue, which provides strength and flexibility to structures throughout the body, including skin and joints. The extracellular matrix is necessary for cell stability and growth. Research suggests that type VI collagen links basement membranes, which are thin, sheet-like structures that are part of the extracellular matrix, to nearby cells.

Health Conditions Related to Genetic Changes

Collagen VI-related dystrophy

Variants (also known as mutations) in the COL6A1 gene have been found to cause some cases of collagen VI-related dystrophy, which is a group of disorders that vary in severity but generally result in muscle weakness and joint deformities called contractures. These variants often change single protein building blocks (amino acids) in the α1(VI) chain. The most frequently affected amino acid is glycine; changes to this building block disrupt the structure of the α1(VI) chain.

Variants in the COL6A1 gene affect type VI collagen in different ways:

  • Some variants lead to altered α1(VI) chains that can be incorporated into the mature type VI collagen molecule, although they disrupt the molecule's structure and function.
  • Other variants result in an altered chain that cannot be incorporated at all.
  • Some variants prevent the production of any functional α1(VI) chain, which impedes the formation of type VI collagen.

All of these COL6A1 gene variants lead to a reduction or absence of functional collagen VI molecules. While it is difficult to predict the severity of collagen VI-related dystrophy based on the type of variant, in general, lower amounts of type VI collagen lead to more severe signs and symptoms that begin earlier in life.

Changes in α1(VI) chain structure or production lead to an unstable extracellular matrix that is no longer attached to cells through the basement membrane. As a result, the stability of muscle cells and connective tissue progressively declines, which leads to the muscle weakness, contractures, and other signs and symptoms of collagen VI-related dystrophy.

Limb-girdle muscular dystrophy

MedlinePlus Genetics provides information about Limb-girdle muscular dystrophy.

Genomic Location

The COL6A1 gene is found on chromosome 21.

Frequently Asked Questions

Management focuses on daily passive and active stretching routines, nighttime splinting or bracing, and low-impact aquatic therapy (swimming or hydrotherapy), which supports the body and reduces gravitational strain on weakened muscles. Aggressive high-resistance or eccentric weight training should be avoided, as it can accelerate muscle breakdown. Surgical tendon releases for contractures are approached with caution because contractures frequently recur after immobilization, and post-surgical casting can lead to irreversible loss of muscle strength.
COL6A1-related conditions can follow either an autosomal dominant or an autosomal recessive inheritance pattern. Many severe cases, particularly Ullrich congenital muscular dystrophy, occur as spontaneous, new (de novo) dominant-negative mutations, meaning neither parent carries the altered gene. Milder Bethlem myopathy is often inherited in an autosomal dominant pattern from an affected parent, with a 50 percent chance of passing the variant to each child. Recessive forms, where an individual inherits a pathogenic variant from each healthy carrier parent, carry a 25 percent recurrence risk for future siblings.
Both conditions belong to the collagen VI-related dystrophy spectrum caused by COL6A1 variants, but they differ significantly in severity. Bethlem myopathy is a milder, slowly progressive disorder characterized by mild muscle weakness, finger and ankle joint contractures, and retained ability to walk into late adulthood. Ullrich congenital muscular dystrophy (UCMD) is a severe congenital form characterized by significant muscle weakness from birth or infancy, delayed motor milestones, proximal joint contractures combined with extreme laxity in distal joints, and early loss of independent ambulation. Intermediate phenotypes between these two classic forms also occur.
Type VI collagen deficiency disproportionately affects the diaphragm and intercostal muscles compared to limb muscles. In many patients, especially those with Ullrich congenital muscular dystrophy or intermediate forms, diaphragmatic weakness causes nocturnal hypoventilation before substantial daytime symptoms appear. Regular pulmonary function tests (measuring forced vital capacity in both sitting and supine positions) and overnight sleep studies or pulse oximetry are critical. Early initiation of nighttime non-invasive ventilation (such as BiPAP) preserves lung development, prevents respiratory failure, and significantly improves quality of life.
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.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss