Sacsin (SACS) Recombinant Protein | SACS recombinant protein

Recombinant Human Sacsin (SACS) , partial

• Gene Names: SACS; SPAX6; ARSACS; DNAJC29; PPP1R138
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Sacsin (SACS); Recombinant Human Sacsin (SACS); partial; SACS recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Length: 3,829

• Species: Human
• Preparation and Storage: Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.

Related Product Information for SACS recombinant protein

This gene consists of nine exons including a gigantic exon spanning more than 12.8k bp. It encodes the sacsin protein, which includes a UBQ region at the N-terminus, a HEPN domain at the C-terminus and a DnaJ region upstream of the HEPN domain. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. 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. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.

NCBI and Uniprot Product Information

• NCBI GI #: 163659918
• NCBI GeneID: 26278
• NCBI Accession #: NP_055178.3
• NCBI GenBank Nucleotide #: NM_014363.5
• UniProt Accession #: Q9NZJ4; O94835; Q5T9J5; Q5T9J7; Q5T9J8; Q68DF5; Q6MZR4; Q8NBF9
• Molecular Weight: 436,976 Da
• NCBI Official Full Name: sacsin isoform 1
• NCBI Official Synonym Full Names: sacsin molecular chaperone
• NCBI Official Symbol: SACS
• NCBI Official Synonym Symbols: SPAX6; ARSACS; DNAJC29; PPP1R138
• NCBI Protein Information: sacsin
• UniProt Protein Name: Sacsin
• Protein Family: Sacsin
• UniProt Gene Name: SACS
• UniProt Synonym Gene Names: KIAA0730; DNAJC29

NCBI Description

This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. 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]

Uniprot Description

Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins.