SLC33A1 Antibody – Mouse Monoclonal

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]

SLC33A1: Probable acetyl-CoA transporter necessary for O- acetylation of gangliosides. Defects in SLC33A1 are the cause of spastic paraplegia autosomal dominant type 42 (SPG42). 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. Defects in SLC33A1 are the cause of congenital cataracts, hearing loss, and neurodegeneration (CCHLND). CCHLND is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination. Belongs to the SLC33A transporter family.

Protein type: Membrane protein, integral; Transporter; Transporter, SLC family; Glycan Metabolism - glycosphingolipid biosynthesis - ganglio series; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 3q25.31

Cellular Component: Golgi membrane; endoplasmic reticulum membrane; membrane; integral to plasma membrane

Molecular Function: acetyl-CoA transporter activity; solute:hydrogen symporter activity

Biological Process: proton transport; acetyl-CoA transport; transport; transmembrane transport

Disease: Spastic Paraplegia 42, Autosomal Dominant; Congenital Cataracts, Hearing Loss, And Neurodegeneration