SLC17A5 Chromosome 6
Solute carrier family 17 member 5
Upload your DNA to see your personal genotypes for variants in SLC17A5.
What This Gene Does
This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 17
Locus Type
gene with protein product
Location
6q13
Ensembl
ENSG00000119899
Associated Conditions (10)
Salla disease
Sialic acid storage disease
severe infantile type
SLC17A5-related disorder
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
Enhanced S-cone syndrome
Colon adenocarcinoma
Familial cancer of breast
Intermediate severe Salla disease
Key Variants
RS141341430
Conflicting classifications of pathogenicity
Salla disease, Sialic acid storage disease, severe infantile type
Health Risk
RS141463026
Conflicting classifications of pathogenicity
Sialic acid storage disease, severe infantile type, Salla disease
Health Risk
RS142553916
Conflicting classifications of pathogenicity
Sialic acid storage disease, severe infantile type, Salla disease
Health Risk
RS147732875
Conflicting classifications of pathogenicity
Salla disease, Sialic acid storage disease, severe infantile type
Health Risk
RS372195490
Conflicting classifications of pathogenicity
Sialic acid storage disease, severe infantile type, Salla disease
Health Risk
RS374241516
Conflicting classifications of pathogenicity
Salla disease, Sialic acid storage disease, severe infantile type
Health Risk
RS587779410
Conflicting classifications of pathogenicity
Sialic acid storage disease, severe infantile type, Inborn genetic diseases
Health Risk
RS74360232
Conflicting classifications of pathogenicity
Salla disease, Sialic acid storage disease, severe infantile type
Health Risk
RS757218186
Conflicting classifications of pathogenicity
Salla disease, Inborn genetic diseases, Salla disease
Health Risk
RS924683894
Conflicting classifications of pathogenicity
Sialic acid storage disease, severe infantile type, Salla disease
Health Risk
RS1057516257
Likely pathogenic
Salla disease, Salla disease
Health Risk
RS1057516419
Likely pathogenic
Salla disease, Salla disease
Health Risk
All Variants (131)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2533510621 | Health Risk | Likely pathogenic | Salla disease, Sialic acid storage disease, severe infantile type |
| RS2533510735 | Health Risk | Likely pathogenic | Salla disease, Sialic acid storage disease, severe infantile type |
| RS2533510907 | Health Risk | Likely pathogenic | Salla disease, Sialic acid storage disease, severe infantile type |
| RS2533511205 | Health Risk | Likely pathogenic | Salla disease, Sialic acid storage disease, severe infantile type |
| RS2533511487 | Health Risk | Likely pathogenic | — |
| RS2533511497 | Health Risk | Likely pathogenic | Salla disease, Sialic acid storage disease, severe infantile type |
| RS2533519850 | Health Risk | Likely pathogenic | Salla disease, Salla disease |
| RS2533519854 | Health Risk | Likely pathogenic | Salla disease, Sialic acid storage disease, severe infantile type |
| RS2533520022 | Health Risk | Likely pathogenic | Salla disease, Salla disease |
| RS2533549900 | Health Risk | Likely pathogenic | Salla disease, Salla disease |
| RS386833989 | Health Risk | Likely pathogenic | Salla disease, Salla disease |
| RS386833991 | Health Risk | Likely pathogenic | Salla disease, Salla disease |
| RS386833995 | Health Risk | Likely pathogenic | Salla disease, Salla disease, Salla disease |
| RS386833996 | Health Risk | Likely pathogenic | Salla disease, Salla disease |
| RS754150739 | Health Risk | Likely pathogenic | Salla disease, Salla disease |
| RS1057516549 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS1057516601 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS1057517028 | Health Risk | Pathogenic | Salla disease, Intermediate severe Salla disease, Sialic acid storage disease |
| RS1064794334 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS1304456183 | Health Risk | Pathogenic | Salla disease, Salla disease, Sialic acid storage disease |
| RS1321115911 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS1554163945 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS1554164096 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS1581971388 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS1768168686 | Health Risk | Pathogenic | Salla disease, Sialic acid storage disease, severe infantile type |
| RS1768947811 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS1769129693 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS1769303765 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS201284672 | Health Risk | Pathogenic | Salla disease, Sialic acid storage disease, severe infantile type |
| RS2150099225 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS2150099393 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS2150115214 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS2150120881 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS2150120888 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS2533429249 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS2533429418 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS2533429537 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS2533429691 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS2533450214 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS2533450349 | Health Risk | Pathogenic | Salla disease, Sialic acid storage disease, severe infantile type |
| RS2533491152 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS2533494547 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS2533510673 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS2533519945 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS2533550442 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS386833987 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS386833988 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS386833994 | Health Risk | Pathogenic | Sialic acid storage disease, severe infantile type, Salla disease |
| RS745386414 | Health Risk | Pathogenic | Salla disease, Salla disease |
| RS753049782 | Health Risk | Pathogenic | Salla disease, Salla disease |