Cell Biology Antibodies 9

Anti-ALS2 Antibody (CAB4895)

(No reviews yet) Write a Review
SKU:
CAB4895
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

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
View AllClose

0 Reviews

View AllClose

Related Products

Anti-QK1 Antibody (CAB0193)

Anti-QK1 Antibody (CAB0193)

OverviewProduct Name:QK1 Rabbit mAbProduct Code:CAB0193Size:20uL, 50uL, 100uLSynonyms:QKI, Hqk, QK, QK1, QK3, hqkI, protein quaking
Anti-EXOSC7 Antibody (CAB0501)

Anti-EXOSC7 Antibody (CAB0501)

OverviewProduct Name:EXOSC7 Rabbit mAbProduct Code:CAB0501Size:20uL, 50uL, 100uLSynonyms:EXOSC7, EAP1, RRP42, Rrp42p, hRrp42p, p8, exoso