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The protein encoded by SLC33A1 is required for the formation of O-acetylated (Ac) gangliosides. Zusätzlich bieten wir Ihnen SLC33A1 Antikörper (45) und viele weitere Produktgruppen zu diesem Protein an.
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SLC33A1 can negatively regulate BMP signaling.
IRE1 (zeige ERN1 Proteine)/XBP1 (zeige XBP1 Proteine) controls the induction of autophagy/ERAD(II) during the unfolded protein response by activating the ER membrane transporter SLC33A1/AT-1
Homozygosity mapping displayed a region of commonality among three families at chromosome 3q25. Deep sequencing and conventional sequencing disclosed homozygous or compound heterozygous mutations for all affected subjects in SLC33A1.
translocates acetyl-CoA (zeige LPCAT2 Proteine) into the ER lumen and is essential for cell viability
A missense mutation in SLC33A1 causes autosomal-dominant spastic paraplegia.
SLC33A1 can negatively regulate BMP signaling in mice.
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.
acetyl-coenzyme A transporter 1
, acetyl-coenzyme A transporter
, acetyl-CoA transporter 1
, solute carrier family 33 member 1