Cell Biology Antibodies 9

Anti-MKS1 Antibody (CAB4802)

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SKU:
CAB4802
Product Type:
Antibody
Antibody Type:
Polyclonal Antibody
Reactivity:
Human
Reactivity:
Mouse
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Synonyms:
MKS1
Synonyms:
BBS13
Synonyms:
JBTS28
Synonyms:
MES
Synonyms:
MKS
Synonyms:
POC12
Research Area:
Cell Biology

Description

Product Name:MKS1 Rabbit pAb
Product Code:CAB4802
Size:20uL, 50uL, 100uL
Synonyms:MKS1, BBS13, JBTS28, MES, MKS, POC12
Applications:WB, IF
Reactivity:Human, Mouse, Rat
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 150-300 of human MKS1 (NP_060247.2).
Applications:WB, IF
Recommended Dilutions:WB 1:500 - 1:2000 IF 1:50 - 1:200
Reactivity:Human, Mouse, Rat
Positive Samples:MCF7, BT-474, A-549, SW480, Mouse testis, Mouse ovary, Mouse small intestine, Rat brain, Rat liver
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 150-300 of human MKS1 (NP_060247.2).
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:EVPS FLVE RMAN VRRR RQDR RGME GGIL KSRI VTWE PSEE FVRN NHVI NTPL QTMH IMAD LGPY KKLG YKKY EHVL CTLK VDSN GVIT VKPD FTGL KGPY RIET EGEK QELW KYTI DNVS PHAQ PEEE ERER RVFK DLYG RHKE YLSS LVG
Gene ID:54903
Uniprot:Q9NXB0
Cellular Location:Cytoplasm, centrosome, cilium basal body, cytoskeleton, microtubule organizing center
Calculated MW:59kDa/63kDa/64kDa
Observed MW:80kDa
UniProt Protein Function:MKS1: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. Defects in MKS1 are the cause of Meckel syndrome type 1 (MKS1). MKS1 is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Defects in MKS1 are the cause of Bardet-Biedl syndrome type 13 (BBS13). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Unknown function

Chromosomal Location of Human Ortholog: 17q22

Cellular Component: centriole; centrosome; membrane; cytoplasm; cytosol

Molecular Function:protein binding

Biological Process: branching morphogenesis of a tube; organelle organization and biogenesis; cilium biogenesis

Disease: Bardet-biedl Syndrome 13; Meckel Syndrome, Type 1

NCBI Summary:The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
UniProt Code:Q9NXB0
NCBI GenInfo Identifier:89242137
NCBI Gene ID:54903
NCBI Accession:NP_060247.2
UniProt Secondary Accession:Q9NXB0,Q284T0, Q96G13, B7WNX4, F5H885,
UniProt Related Accession:Q9NXB0
Molecular Weight:63,344 Da
NCBI Full Name:Meckel syndrome type 1 protein isoform 1
NCBI Synonym Full Names:Meckel syndrome, type 1
NCBI Official Symbol:MKS1  
NCBI Official Synonym Symbols:MES; MKS; BBS13; POC12  
NCBI Protein Information:Meckel syndrome type 1 protein; FABB proteome-like protein; POC12 centriolar protein homolog
UniProt Protein Name:Meckel syndrome type 1 protein
Protein Family:Meckel syndrome type 1 protein
UniProt Gene Name:MKS1  
UniProt Entry Name:MKS1_HUMAN
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