What does the SHANK3 gene do?
The SHANK3 gene provides instructions for making a protein that is found in many of the body’s tissues but is most abundant in the brain. The SHANK3 protein plays a role in the functioning of synapses, which are the connections between nerve cells (neurons) where cell-to-cell communication occurs.
What does SHANK3 stand for?
SH3 and multiple ankyrin repeat domains 3 (Shank3), also known as proline-rich synapse-associated protein 2 (ProSAP2), is a protein that in humans is encoded by the SHANK3 gene on chromosome 22. Additional isoforms have been described for this gene but they have not yet been experimentally verified.
What is SHANK3 autism?
SHANK3 is a leading autism candidate gene, with mutations occurring in between 1 and 2 percent of individuals with autism spectrum disorders. SHANK3 encodes a protein that is essential for proper functioning of the synapse, the junction between neurons.
Where is SHANK3 gene located?
“SHANK3 gene is located at the tip of chromosome 22, specifically in the 22q13 region.
What is SHANK3 protein?
SHANK3 is a synaptic scaffolding protein enriched in the postsynaptic density of excitatory synapses, and plays important roles in the formation, maturation, and maintenance of synapses. Haploinsufficiency of the SHANK3 gene causes a developmental disorder, 22q13.
What is Phelan-McDermid Syndrome?
Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes developmental and speech delays, behavioral problems and a weakened or no ability to feel pain or sweat. Phelan-McDermid syndrome is a congenital condition (condition that is present at birth) that can affect people of all genders.
What is 5p?
5p- Syndrome is a chromosomal deletion disorder resulting in a wide spectrum of intellectual and developmental abilities. Each year in the United States, approximately 50 to 60 children are born with 5p- Syndrome, also known as Cri du Chat Syndrome.
What is 5p deletion syndrome?
Cri-du-chat (cat’s cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing . Infants with this condition often have a high-pitched cry that sounds like that of a cat.