solute carrier family 33 member 1
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalHereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood onset hereditary spastic paraplegia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal+3 more panels — install the extension to see the full list inline on any page.
Huppke-Brendel syndrome
Autosomal dominant spastic paraplegia type 42
hereditary spastic paraplegia 42
Spastic paraplegia
neurodegenerative disease
hereditary spastic paraplegia
mathematical ability
hemochromatosis
cataract
focal epilepsy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Acetyl-coenzyme A transporter 1
Acetyl-CoA transporter that mediates active acetyl-CoA import through the endoplasmic reticulum (ER) membrane into the ER lumen where specific ER-based acetyl-CoA:lysine acetyltransferases are responsible for the acetylation of ER-based protein substrates, such as BACE1 (PubMed:20826464, PubMed:24828632). Necessary for O-acetylation of gangliosides (PubMed:9096318)
Curated MONDO disease pages that list SLC33A1 among their top associated genes.
SLC33A1 · O00400
Mean pLDDT
82.4/ 100
Confident
549 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
