Aliases

• ACATN
• AT-1
• AT1
• Acetyl-CoA Transporter 1
• Acetyl-Coenzyme A Transporter
• Acetyl-Coenzyme A Transporter 1
• CCHLND
• SLC33A1
• SPG42
• Solute Carrier Family 33 (Acetyl-CoA Transporter), Member 1
• Solute Carrier Family 33 Member 1
• Spastic Paraplegia 42 (Autosomal Dominant)

Description

From NCBI Gene: 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]

Attributes

QA State

Under Review

Type

Protein

HGNC Name

SLC33A1