基因名称(Gene Name)
SLC33A1 ACATN AT1
蛋白名称
Acetyl-coenzyme A transporter 1 (AT-1) (Acetyl-CoA transporter 1) (Solute carrier family 33 member 1)
免疫原
Synthesized peptide derived from human protein . at AA range: 110-190
特异性
ACATN Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010],
功能
disease:Defects in SLC33A1 are the cause of spastic paraplegia autosomal dominant type 42 (SPG42) [MIM:612539]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.,function:Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides.,similarity:Belongs to the SLC33A transporter family.,tissue specificity:Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pa
