Rabbit Anti-Sacsin/FITC Conjugated antibody

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DnaJ homolog subfamily C member 29; DNAJC29; SACS; SACS_HUMAN; Sacsin; spastic ataxia of Charlevoix-Saguenay.

Cat:

SL19363R-FITC

Species Reactivity：

(predicted: Human,Mouse,Rat,Pig,Rabbit,)

Immunogen：

KLH conjugated synthetic peptide derived from human Sacsin

Format：

Lyophilized or Liquid

Storage instructions：

Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of ant

Buffer：

0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ICC=1:50-200IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

Calculated MW：

521kDa

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Unit:

Price: $596.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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background:
This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the SLCterminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

Function:
Phosphoinositide phosphatase that hydrolyzes PtdIns3P and PtdIns4P. Has low activity towards PtdIns(3,5)P2 (By similarity).
Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins.

Subcellular Location:
Cytoplasm. Predominantly cytoplasmic, a small portion is present in the nucleus and also shows a partial mitochondrial overlap with the mitochondrial marker Hsp60.

Tissue Specificity:
Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas.

DISEASE:
Defects in SACS are the cause of spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]. It is a neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse.

Similarity:
Contains 1 HEPN domain.
Contains 1 J domain.
Contains 1 ubiquitin-like domain.

Database links:

Entrez Gene: 26278 Human

Entrez Gene: 50720 Mouse

Entrez Gene: 305940 Rat

Omim: 604490 Human

SwissProt: Q9NZJ4 Human

SwissProt: Q9JLC8 Mouse

Unigene: 159492 Human

Unigene: 88703 Mouse

Unigene: 446687 Mouse

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

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