ALS2 Antibody (PACO43209)
- SKU:
- PACO43209
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- IHC
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Description
抗体名: | ALS2 Antibody (PACO43209) |
抗体コード: | PACO43209 |
サイズ: | 50ul |
宿主種: | Rabbit |
申し込み: | ELISA, IHC |
推奨される希釈: | ELISA:1:2000-1:10000, IHC:1:20-1:200 |
反応性: | Human |
免疫原: | Recombinant Human Alsin protein (1-280AA) |
憲法: | Liquid |
ストレージバッファ: | PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
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 |
![]() | Immunohistochemistry of paraffin-embedded human breast cancer using PACO43209 at dilution of 1:100. |
![]() | Immunohistochemistry of paraffin-embedded human pancreatic tissue using PACO43209 at dilution of 1:100. |
バックグラウンド: | May act as a GTPase regulator. Controls survival and growth of spinal motoneurons. |
シノニム: | Alsin (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein) (Amyotrophic lateral sclerosis 2 protein), ALS2, ALS2CR6 KIAA1563 |
UniProt Protein Function: | ALS2: May act as a GTPase regulator. Controls survival and growth of spinal motoneurons. Defects in ALS2 are the cause of amyotrophic lateral sclerosis type 2 (ALS2). ALS2 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of cases leading to familial forms. Defects in ALS2 are the cause of juvenile primary lateral sclerosis (JPLS). JPLS is a neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons of the motor cortex while the lower neurons are unaffected. Defects in ALS2 are the cause of infantile-onset ascending spastic paralysis (IAHSP). IAHSP is characterized by progressive spasticity and weakness of limbs. 3 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:GEFs; GEFs, Rab Chromosomal Location of Human Ortholog: 2q33.1 Cellular Component: ruffle; centrosome; protein complex; growth cone; lamellipodium; postsynaptic density; dendrite; early endosome; dendritic spine; cytosol; vesicle Molecular Function:protein serine/threonine kinase activator activity; protein binding; protein homodimerization activity; Ran guanyl-nucleotide exchange factor activity; Rac guanyl-nucleotide exchange factor activity; guanyl-nucleotide exchange factor activity; Rab guanyl-nucleotide exchange factor activity; Rab GTPase binding Biological Process: receptor recycling; synaptic transmission, glutamatergic; protein localization; regulation of endosome size; behavioral fear response; endosome organization and biogenesis; vesicle organization and biogenesis; positive regulation of protein kinase activity; locomotory behavior; response to oxidative stress; endosome transport; neuromuscular junction development; neurite morphogenesis Disease: Amyotrophic Lateral Sclerosis 2, Juvenile; Primary Lateral Sclerosis, Juvenile; Spastic Paralysis, Infantile-onset Ascending |
NCBI Summary: | The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] |
UniProt Code: | Q96Q42 |
NCBI GenInfo Identifier: | 296434394 |
NCBI Gene ID: | 57679 |
NCBI Accession: | Q96Q42.2 |
UniProt Secondary Accession: | Q96Q42,Q53TT1, Q53TV2, Q8N1E0, Q96PC4, Q96Q41, Q9H973 Q9HCK9, |
UniProt Related Accession: | Q96Q42 |
Molecular Weight: | 1657 |
NCBI Full Name: | Alsin |
NCBI Synonym Full Names: | amyotrophic lateral sclerosis 2 (juvenile) |
NCBI Official Symbol: | ALS2 |
NCBI Official Synonym Symbols: | ALSJ; PLSJ; IAHSP; ALS2CR6 |
NCBI Protein Information: | alsin; amyotrophic lateral sclerosis 2 protein; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein |
UniProt Protein Name: | Alsin |
UniProt Synonym Protein Names: | Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; Amyotrophic lateral sclerosis 2 protein |
Protein Family: | Alsin |
UniProt Gene Name: | ALS2 |
UniProt Entry Name: | ALS2_HUMAN |