SLC33A1 Chromosome 3
Solute carrier family 33 member 1
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What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 33
Locus Type
gene with protein product
Location
3q25.31
Ensembl
ENSG00000169359
Associated Conditions (9)
Spastic paraplegia
Inborn genetic diseases
SLC33A1-related disorder
Hereditary spastic paraplegia 42
Hereditary spastic paraplegia
Failure to thrive
Global developmental delay
Hypothyroidism
Huppke-Brendel syndrome
Key Variants
RS148175458
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS148470862
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS200914930
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS2472953740
Conflicting classifications of pathogenicity
SLC33A1-related disorder, Spastic paraplegia, SLC33A1-related disorder
Health Risk
RS373181939
Conflicting classifications of pathogenicity
SLC33A1-related disorder, Inborn genetic diseases, SLC33A1-related disorder
Health Risk
RS76440173
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 42, Hereditary spastic paraplegia
Health Risk
RS767949889
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS1266904735
Likely pathogenic
Failure to thrive, Global developmental delay, Hypothyroidism
Health Risk
RS121909484
Pathogenic
Hereditary spastic paraplegia 42, Hereditary spastic paraplegia 42
Health Risk
RS1308995894
Pathogenic
Huppke-Brendel syndrome, Huppke-Brendel syndrome
Health Risk
RS1577455542
Pathogenic
Huppke-Brendel syndrome, Huppke-Brendel syndrome
Health Risk
RS1577455897
Pathogenic
Huppke-Brendel syndrome, Huppke-Brendel syndrome
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148175458 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS148470862 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS200914930 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS2472953740 | Health Risk | Conflicting classifications of pathogenicity | SLC33A1-related disorder, Spastic paraplegia, SLC33A1-related disorder |
| RS373181939 | Health Risk | Conflicting classifications of pathogenicity | SLC33A1-related disorder, Inborn genetic diseases, SLC33A1-related disorder |
| RS76440173 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia 42, Hereditary spastic paraplegia |
| RS767949889 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS1266904735 | Health Risk | Likely pathogenic | Failure to thrive, Global developmental delay, Hypothyroidism |
| RS121909484 | Health Risk | Pathogenic | Hereditary spastic paraplegia 42, Hereditary spastic paraplegia 42 |
| RS1308995894 | Health Risk | Pathogenic | Huppke-Brendel syndrome, Huppke-Brendel syndrome |
| RS1577455542 | Health Risk | Pathogenic | Huppke-Brendel syndrome, Huppke-Brendel syndrome |
| RS1577455897 | Health Risk | Pathogenic | Huppke-Brendel syndrome, Huppke-Brendel syndrome |
| RS1577482029 | Health Risk | Pathogenic | Huppke-Brendel syndrome, Huppke-Brendel syndrome |
| RS2109312898 | Health Risk | Pathogenic | Spastic paraplegia, Huppke-Brendel syndrome, Spastic paraplegia |
| RS281875283 | Health Risk | Pathogenic | Huppke-Brendel syndrome, Huppke-Brendel syndrome |
| RS863223316 | Health Risk | Pathogenic | Huppke-Brendel syndrome, Huppke-Brendel syndrome |