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SACS

Official Full Name

spastic ataxia of Charlevoix-Saguenay (sacsin)
Overview

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.
Synonyms

SACS; spastic ataxia of Charlevoix-Saguenay (sacsin); sacsin; DnaJ homolog subfamily C member 29; DNAJC29; SACS_HUMAN; spastic ataxia of Charlevoix-Saguenay; ARSACS;

Species	Cat.#	Product name	Source (Host)	Tag	Price
Mouse	SACS-14640M	Recombinant Mouse SACS Protein	Mammalian Cell	His	Inquiry
Mouse	SACS-7882M	Recombinant Mouse SACS Protein, His (Fc)-Avi-tagged	HEK293	His (Fc)-Avi	Inquiry
Mouse	SACS-7882M-B	Recombinant Mouse SACS Protein Pre-coupled Magnetic Beads	HEK293		Inquiry

Involved Pathway
Protein Function
Interacting Protein
SACS Related Articles

SACS involved in several pathways and played different roles in them. We selected most pathways SACS participated on our site, such as , which may be useful for your reference. Also, other proteins which involved in the same pathway with SACS were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.

Pathway Name	Pathway Related Protein

SACS has several biochemical functions, for example, low-density lipoprotein particle receptor binding. Some of the functions are cooperated with other proteins, some of the functions could acted by SACS itself. We selected most functions SACS had, and list some proteins which have the same functions with SACS. You can find most of the proteins on our site.

Function	Related Protein
low-density lipoprotein particle receptor binding	LANCL1;CCDC167;PCSK9;HSP90B1;LDLRAP1;SYT1;SLC9A3R2;LRPAP1;MMP13

SACS has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with SACS here. Most of them are supplied by our site. Hope this information will be useful for your research of SACS.

Marshall, VA; Johnson, KJ; et al. Comparative Response of Rat and Rabbit Conceptuses In Vitro to Inhibitors of Histiotrophic Nutrition. BIRTH DEFECTS RESEARCH PART B-DEVELOPMENTAL AND REPRODUCTIVE TOXICOLOGY 104:1-10(2015).

Niedojadlo, K; Hyjek, M; et al. Spatial and temporal localization of homogalacturonans in Hyacinthus orientalis L. ovule cells before and after fertilization. PLANT CELL REPORTS 34:97-109(2015).