Description
| Product Name: | ALS2 Rabbit pAb |
| Product Code: | CAB4895 |
| Size: | 20uL, 50uL, 100uL |
| Synonyms: | ALS2, ALS2CR6, ALSJ, IAHSP, PLSJ, alsin |
| Applications: | WB, IF |
| Reactivity: | Human, Mouse |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-280 of human ALS2 (NP_065970.2). |
| Applications: | WB, IF |
| Recommended Dilutions: | WB 1:200 - 1:2000 IF 1:50 - 1:200 |
| Reactivity: | Human, Mouse |
| Positive Samples: | Mouse testis, Mouse thymus |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-280 of human ALS2 (NP_065970.2). |
| Purification Method: | Affinity purification |
| Storage: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | MDSK KRSS TEAE GSKE RGLV HIWQ AGSF PITP ERLP GWGG KTVL QAAL GVKH GVLL TEDG EVYS FGTL PWRS GPVE ICPS SPIL ENAL VGQY VITV ATGS FHSG AVTD NGVA YMWG ENSA GQCA VANQ QYVP EPNP VSIA DSEA SPLL AVRI LQLA CGEE HTLA LSIS REIW AWGT GCQL GLIT TAFP VTKP QKVE HLAG RVVL QVAC GAFH SLAL VQCL PSQD LKPV PERC NQCS QLLI TMTD KEDH VIIS DSHC CPLG VTLT ESQA ENHA STAL SPST |
| Gene ID: | 57679 |
| Uniprot: | Q96Q42 |
| Calculated MW: | 42kDa/86kDa/183kDa |
| Observed MW: | 174kDa |
| 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 |
Additional Information
Product Type: |
Antibody |
Antibody Type: |
Polyclonal Antibody |
Reactivity: |
Human |
Reactivity: |
Mouse |
Host Species: |
Rabbit |
Isotype: |
IgG |
Synonyms: |
ALS2 |
Synonyms: |
ALS2CR6 |
Synonyms: |
ALSJ |
Synonyms: |
IAHSP |
Synonyms: |
PLSJ |
Synonyms: |
alsin |
Research Area: |
Cell Biology |
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