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Rabbit Anti-Oligophrenin 1/FITC Conjugated antibody
background:
Ras p21 can exist in either a physiologically quiescent GDP-binding state or a GTP-binding signal-emitting state (1,2). Interaction of Ras p21 with GTPase activating protein (GAP) can increase the rate of hydrolysis of Ras p21-bound GTP by as much as 1000-fold (3). In mitogenically activated and tyrosine kinase-transformed cells, Ras GAP forms a complex with a protein designated p190 (4). At its amino terminus, p190 contains sequence motifs characteristic of all known GTPases, whereas the carboxy terminus contains sequences similar to those found in the Bcr gene product, n-chimerin and Rho GAP, all of which exhibit intrinsic GAP activity (4,5). Oligophrenein-1 is an additional protein with GTPase activating activity. Oligophrenein-1 is a RhoGAP protein that stimulates GTP hydrolysis of Rho subfamily members and is involved in cell migration, morphogenesis and axon outgrowth (6).
Function:
Stimulates GTP hydrolysis of members of the Rho family. Could activates GTPase targets that are known to affect cell migration and outgrowth of axons and dendrites.
Subunit:
Interacts with HOMER1. Interacts with AMPA receptor complexes. Interacts with SH3GL2 (endophilin-A1)
Subcellular Location:
Cell junction, synapse. Cell projection, axon. Cell projection, dendritic spine. Note=Present in both presynaptic and postsynaptic sites
Tissue Specificity:
Expressed in brain.
DISEASE:
Defects in OPHN1 are the cause of mental retardation X-linked OPHN1-related (MRXSO) [MIM:300486]; formerly designated MRX60. MRXSO is a syndromic mental retardation. Patients present mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism.
Similarity:
Contains 1 PH domain.
Contains 1 Rho-GAP domain.
Database links:
Entrez Gene: 4983 Human
Omim: 300127 Human
SwissProt: O60890 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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