SHANK3

SHANK3

A gene on chromosome 22q13.3 that encodes a member of the Shank gene family, which are multidomain scaffold proteins of the postsynaptic density (PSD) involved in synapse formation and dendritic spine maturation. The PSD connects neurotransmitter receptors, ion channels and other membrane proteins to the actin cytoskeleton and G protein-coupled signalling pathways.

Molecular pathology
SHANK3 mutations are a cause of autism spectrum disorder, and are linked to the neurologic changes of 22q13.3 deletion syndrome.
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also in their study indicated duplications at SHANK3 gene along with CHRNA7 gene in two cases and proposed a multi effect model for autism-genetic basis (16).
Chromosomes were obtained from peripheral blood lymphocyte cultures and stained for GTG-bands (at a resolution of ~400 bands per haploid set) or subjected to FISH with a dual probe TUPLE1(HIRA) spectrum orange/ARSA spectrum green, Vysis[R]) or TUPLE1 (22q11)/22q13(SHANK3), Kreatech[R]).
They also plan to use the Purkinje cell platform to study other ASD-related genetic disorders, including Fragile X and SHANK3 mutation, and to test potential drugs.
Studies to find candidate genes that are associated with ASD have used cytogenetics, targeted sequencing, and genome-wide association; identifying a large amount of genes may be responsible [5, 8] such as SHANK3 on chromosome 22p16.3 and NRXN1 and NLGN3/4 on chromosomes Xq13 and Xq22.33 [9].
Scattoni et al., "Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice," The Journal of Neuroscience, vol.
(62) Rare variants in genes of postsynaptic scaffolding molecules (Shank2 and Shank3), postsynaptic cell adhesion molecules (neurogilin-3 and -4), and their presynaptic binding partners (neurexin-1) are linked to ASDs.
Sindrome genetica Causa Sindrome do miado do gato Delecao do cromossomo 5p Sindrome de Wolf-Hirschorn Delecao do cromossomo 4p16.3 Associacao CHARGE Microduplicacao 8q12 Sindrome de Phelan-Mcder-mid Microdelecao do cromossomo 22q13; mutacao gene SHANK3 Sindrome de Prader-Willi Microdelecao do cromossomo 15q11 Sindrome de Williams Microdelecao do cromossomo 7q11.23 Sindrome de Smith Magenis Delecao do cromossomo 17p11.2 Sindrome velocardiofacial Delecao do cromossomo 22q11.2 (Sd.
One gene Feng hopes to alter in the animals is SHANK3. The gene is involved in how neurons communicate; when it's damaged in children, it is known to cause autism.
Shank3 mutant mice display autistic-like behaviours and striate!
Two of the autism-related proteins, called SHANK3 and TSC1, had a surprisingly cozy relationship.
A study of mice found that those with a mutated Shank3 brain protein showed social problems and repetitive actions that mirror autism spectrum disorders in humans.
They found that when one copy of the SHANK3 gene in mice is missing, nerve cells do not effectively communicate and do not show cellular properties associated with normal learning.