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LMPD Database

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LMP004676

UniProt Annotations

Entry Information

Gene Name	solute carrier family 33 (acetyl-CoA transporter), member 1
Protein Entry	ACATN_HUMAN
UniProt ID	O00400
Species	Human

Comments

Comment type	Description
Disease	Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) [MIM
Disease	Spastic paraplegia 42, autosomal dominant (SPG42) [MIM
Function	Probable acetyl-CoA transporter necessary for O- acetylation of gangliosides.
Similarity	Belongs to the SLC33A transporter family.
Subcellular Location	Endoplasmic reticulum membrane ; Multi-pass membrane protein .
Tissue Specificity	Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas.
Web Resource	Name=Mendelian genes solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/SLC33A1";