Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides. Negatively regulates BMP signaling (By similarity).
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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: Glycan Metabolism - glycosphingolipid biosynthesis - ganglio series; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, SLC family
Cellular Component: endoplasmic reticulum membrane; integral to plasma membrane; membrane
Molecular Function: acetyl-CoA transporter activity; solute:hydrogen symporter activity
Biological Process: BMP signaling pathway
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