Home
>
Product
>
Antibody
>
Rabbit Anti-SLC33A1/FITC Conjugated antibody
background:
Acetyl-coenzyme A transportor 1 is required for the formation of O-acetylated (Ac) gangliosides. It is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Studies indicate that the protein is localized to the cytoplasm.
Function:
Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides.
Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable).
Tissue Specificity:
Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas.
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
Similarity:
Belongs to the SLC33A transporter family.
Database links:
Entrez Gene: 9197 Human
Entrez Gene: 12818 Rat
Omim: 603690 Human
SwissProt: O00400 Human
SwissProt: Q6AYY8 Rat
Unigene: 478031 Human
Unigene: 209601 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|