TBCD stands for Tubulin Folding Cofactor D.TBCD is a protein coding gene.
We all have genes that make us human. We all have the same genes arranged in the same order; the genes for skin and bones, lungs and heart, 2 eyes and ears, 10 fingers and toes, and so on. However, we all have different skin colors, different bone sizes, different eye colors and different ear shapes. In fact, even though humans have the same genes - the products of our own genes work differently from person to person, which makes us ALL UNIQUE!
Genome is a fancy word for all your DNA as a human - and it’s unique to YOU! From people to potatoes & puppies, all living things have their own genome. DNA holds all the information needed to build & maintain your body throughout life. A specific segment of DNA is called a Gene. Each gene makes a specific protein, and these proteins are VERY necessary for life! Proteins are responsible for our growth, movement, reproduction, digestion, aging, and cell repair. For example - running, breathing, eating and talking.
Proteins are made by our body using instructions from genes found along our DNA. Genes are like a blueprint to build and operate our bodies; containing instructions (or genetic code) for your unique characteristics like eye and hair color.
What’s a gene mutation?
A genetic mutation changes the information your cells need to form and function. Your genes are responsible for making proteins that tell your body what physical characteristics you should have. If you have a genetic mutation, you could experience symptoms of a genetic condition because your cells are doing a different job than they should be.
Changes in the DNA sequence are called genetic variants. The majority of genetic variants have no effect on us at all. But, sometimes, the effect is harmful: just one letter missing or changed may result in a damaged protein, extra protein, or no protein at all, with serious consequences for our health. Additionally, the passing of genetic variants from one generation to the next helps to explain why many diseases run in families, such as in sickle cell disease, cystic fibrosis, and Tay-Sachs disease. If a certain disease runs in your family, doctors say you have a family health history for that condition.
Symptoms of genetic conditions depend on which gene has a mutation. There are many different diseases and conditions caused by mutations. The signs and symptoms could include:
Physical characteristics like facial abnormalities, a cleft palate, webbed fingers, short stature.
Problems with cognitive (intellectual) function and developmental delays.
Vision or hearing loss.
Breathing problems.
Increased risk of developing cancer.
For example, we all have a gene that builds your hands - telling your body to make 5 fingers on each hand, then says “STOP” when you have 10 fingers total. If you have a mutation in your “hand gene” (called the HOX genes), you could end up with 6 fingers, webbed fingers, or no fingers. Therefore, these genetic disruptions/mutations can lead to a wide range of conditions.
Not all genetic mutations, or variants, lead to genetic disorders. Some genetic mutations don’t have any effect on your health and well-being. This is because the change in the DNA sequence doesn’t change how your cell functions.
Genetic mutations can happen in 3 ways:
Spontaneously - called “de novo” with no known cause.
Inheritance - passed from one or both parents.
Environment - exposure to toxic chemicals like asbestos, cigarette smoke, UV, radiation.
Inheritance: The Role of Your Parents
The instructions necessary for you to grow throughout your lifetime are passed down from your mother and father. Half of your genome comes from your biological mother and half from your biological father, making you related to each, but identical to neither. Your biological parents' genes influence traits like height, eye color, and disease risk that make you a unique person.
There are several ways that a trait, disorder, or disease can be passed down through families - 2 common ways are dominant or recessive inheritance.
Dominant - only need one copy (passed from either parent) to be expressed/visible, or cause disease.
Recessive - need two copies from both parents in order for the trait or disease to develop.
Some common autosomal recessive disorders you might have heard of include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease.