Human Ras GTPase-activating protein SynGAP (SYNGAP1) ELISA Kit

SYNGAP1 is a ras GTPase-activating protein that is critical for cognition and synapse function. Mutations in humans cause mental retardation.\nSeveral mutations in the SYNGAP1 gene were identified as the cause of mental retardation. Mental retardation is sometimes associated with syndromes of other defects caused by the same gene, but SYNGAP1-associated mental retardation is not; it is therefore called non-syndromic mental retardation. Since neither of the parents of children with this condition have the mutation, this means it was a sporadic mutation that occurred during division of the parents' gametes (meiosis) or fertilization of the egg. It is a dominant mutation, which means that the individual will be retarded if only one allele is mutated.

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SPECIFICATIONS

Catalog Number

KTE60416

Size

48T, 96T, 96T*5, 96T*50

Applications

ELISA

Reactivities

Hum

Gene Id

8831

Accession

Q96PV0

Additional Info

Human Ras GTPase-activating protein SynGAP (SYNGAP1) ELISA Kit has high sensitivity and excellent specificity for detection of Human SYNGAP1. No significant cross-reactivity or interference between Human SYNGAP1 and analogues was observed.