The COL4A5 gene encodes for a type IV collagen protein, which is crucial for the structural integrity of basement membranes in various tissues. Mutations in this gene are primarily associated with Alport syndrome, a genetic disorder that can lead to kidney failure, hearing loss, and eye abnormalities.

COL4A5 Gene

Type IV collagen protein

Structural integrity refers to the ability of a structure to withstand its intended load without experiencing failure or excessive deformation. It is a critical consideration in engineering and architecture to ensure safety, functionality, and longevity of buildings, bridges, and other constructions.

Structural Integrity

Basement membranes

Various tissues

Mutations in this gene

Alport Syndrome is a genetic disorder characterized by kidney disease, hearing loss, and eye abnormalities, primarily caused by mutations in the COL4A3, COL4A4, or COL4A5 genes, which affect the type IV collagen in the basement membranes. It is inherited in X-linked, autosomal recessive, or autosomal dominant patterns, with the X-linked form being the most common and severe.

Alport Syndrome

Genetic disorders are diseases caused by abnormalities in an individual's DNA, which can be inherited or occur spontaneously. These disorders can range from single-gene mutations to complex conditions involving multiple genes and environmental factors.

Genetic Disorder

Kidney failure, also known as renal failure, occurs when the kidneys lose their ability to filter waste from the blood effectively, leading to a buildup of toxins in the body. It can be acute or chronic, with symptoms ranging from reduced urine output to swelling and fatigue, requiring treatments like dialysis or transplantation.

Kidney Failure

Hearing loss is a partial or total inability to hear, which can be caused by a variety of factors including age, noise exposure, and genetic conditions. It affects communication and quality of life, and can be managed with hearing aids, cochlear implants, or other interventions depending on the type and severity.

Hearing Loss

Our eyes can sometimes have problems that make it hard to see clearly or cause them to look different. These problems can be things like needing glasses, having eyes that don't line up, or seeing things blurry.

Concepts

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