full name
solute carrier family 33 member 1

synonyms
ACATN, AT-1, AT1, CCHLND, SPG42, SLC33A1, ENSG00000169359

HGNC
HGNC:95

Entrez Gene
Gene:9197

ENSEMBL
ENSG00000169359

location
chr: 3
start: 155544300
stop: 155572248
strand: -

OMIM
OMIM:603690: SLC33A1 (Autosomal recessive inheritance)
OMIM:614482: Congenital cataracts, hearing loss, and neurodegeneration
OMIM:612539: Spastic paraplegia 42, autosomal dominant

transcripts
NM_001190992.1
NM_004733.3

pathways
Glycosphingolipid biosynthesis - ganglio series [NCBI:82997] [KEGG:hsa00604]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
SLC-mediated transmembrane transport [NCBI:1269907] [REACTOME:R-HSA-425407] [PUBMED:14624363] [PUBMED:19164095]
Transmembrane transport of small molecules [NCBI:1269903] [REACTOME:R-HSA-382551]
Transport of vitamins, nucleosides, and related molecules [NCBI:1269939] [REACTOME:R-HSA-425397]