OPHN1 Antibody (PACO13707)
- SKU:
- PACO13707
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Application:
- IHC
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Description
抗体名: | OPHN1 Antibody (PACO13707) |
抗体コード: | PACO13707 |
サイズ: | 50ul |
宿主種: | Rabbit |
申し込み: | ELISA, WB, IHC |
推奨される希釈: | |
反応性: | Human, Mouse, Rat |
免疫原: | Human OPHN1 |
憲法: | Liquid |
ストレージバッファ: | PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
精製方法: | Antigen Affinity Purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Non-conjugated |
シノニム: | oligophrenin 1;OPHN1;MRX60;OPN1 ; |
UniProt Protein Function: | OPHN1: Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Defects in OPHN1 are the cause of mental retardation X- linked OPHN1-related (MRXSO); formerly designated MRX60. MRXSO is a syndromic mental retardation. Patients present mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism. |
UniProt Protein Details: | Protein type:GAPs; GAPs, Rac/Rho; Motility/polarity/chemotaxis Chromosomal Location of Human Ortholog: Xq12 Cellular Component: dendritic spine; terminal button; cell junction; cytosol; actin cytoskeleton Molecular Function:ionotropic glutamate receptor binding; phospholipid binding; actin binding Biological Process: nervous system development; axon guidance; regulation of small GTPase mediated signal transduction; regulation of synaptic transmission, glutamatergic; small GTPase mediated signal transduction; synaptic vesicle endocytosis; regulation of endocytosis; actin cytoskeleton organization and biogenesis; signal transduction; substrate-bound cell migration, cell extension Disease: Mental Retardation, X-linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance |
NCBI Summary: | This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008] |
UniProt Code: | O60890 |
NCBI GenInfo Identifier: | 21759325 |
NCBI Gene ID: | 4983 |
NCBI Accession: | O60890.1 |
UniProt Secondary Accession: | O60890,Q5JQ81, Q6PCC1, Q8WX47, B9EIP8, |
UniProt Related Accession: | O60890 |
Molecular Weight: | 802 |
NCBI Full Name: | Oligophrenin-1 |
NCBI Synonym Full Names: | oligophrenin 1 |
NCBI Official Symbol: | OPHN1 |
NCBI Official Synonym Symbols: | OPN1; MRX60; ARHGAP41 |
NCBI Protein Information: | oligophrenin-1; mental retardation, X-linked 60; oligophrenin-1, Rho-GTPase activating protein |
UniProt Protein Name: | Oligophrenin-1 |
Protein Family: | Oligophrenin |
UniProt Gene Name: | OPHN1 |
UniProt Entry Name: | OPHN1_HUMAN |