What is TUBB3 syndrome?
E410K, in TUBB3 gene is responsible of a rare disorder clinically characterized by congenital fibrosis of the extraocular muscle type 3 (CFEOM3), intellectual disability and a wide range of neurological and endocrine abnormalities.
What is TUBB3 gene?
The TUBB3 gene provides instructions for making one version of a protein called beta-tubulin (β-tubulin). This protein is part of the tubulin family of proteins that form and organize cell structures called microtubules.
What is TUBB3 a marker of?
TUBB3 Is Associated with High-Grade Histology, Poor Prognosis, p53 Expression, and Cancer Stem Cell Markers in Clear Cell Renal Cell Carcinoma.
What is TUBB4A leukodystrophy?
TUBB4A-related leukodystrophy is a disorder that affects the nervous system. Leukodystrophies are conditions that involve abnormalities of the nervous system’s white matter, which consists of nerve fibers covered by a fatty substance called myelin.
What are neural markers?
A neuronal lineage marker is an endogenous tag that is expressed in different cells along neurogenesis and differentiated cells such as neurons. It allows detection and identification of cells by using different techniques. A neuronal lineage marker can be either DNA, mRNA or RNA expressed in a cell of interest.
How many types of leukodystrophy are there?
There are many different types of leukodystrophies, with new ones being classified each year. Currently there are about 30 classified leukodystrophies and many additional leukoencephalopathies, but many more are still unclassified. Research is ongoing to try to lower the number of unclassified diseases.
What is SOX2 marker?
SOX2, a persistent marker for multipotential neural stem cells derived from embryonic stem cells, the embryo or the adult. Dev Neurosci.
What is the TUBB3 gene?
The human TUBB3 gene is located on chromosome 16q24.3, and consists of 4 exons that transcribe a protein of 450aa. A shorter isoform of 378aa derived from alternative splicing of exon 1 is devoid of part of the N-terminus and may be responsible for mitochondrial expression.
What is a genetic disorder?
What are genetic disorders? Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material. Genes are made of DNA (deoxyribonucleic acid), which contain instructions for cell functioning and the characteristics that make you unique.
What is TUBB4A-related leukodystrophy?
In particular, TUBB4A -related leukodystrophy involves hypomyelination, which means that the nervous system has a reduced ability to form myelin. In some affected individuals, myelin may also break down, which is known as demyelination. People with TUBB4A -related leukodystrophy have different combinations of signs and symptoms.
How do different TUBB3 variations affect each person differently?
Different TUBB3 variations affect each person differently. We have found that they way the person affected with a TUBB3 mutation presents varies greatly from person to person. Some show minimal symptoms and some show a lot more and the mutation affects them much more dramatically. Each person is different, but there are still a lot of similarities.
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