SLC5A6 Chromosome 2
Solute carrier family 5 member 6
Upload your DNA to see your personal genotypes for variants in SLC5A6.
What This Gene Does
Enables biotin transmembrane transporter activity; iodide transmembrane transporter activity; and pantothenate transmembrane transporter activity. Involved in iodide transmembrane transport; transport across blood-brain barrier; and vitamin transmembrane transport. Located in apical plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Solute carrier family 5
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000138074
Associated Conditions (9)
Neurodegeneration
infantile-onset
biotin-responsive
Inborn genetic diseases
SLC5A6-related disorder
Peripheral motor neuropathy
childhood-onset
Squamous cell lung carcinoma
Cervical cancer
Key Variants
RS143540129
Conflicting classifications of pathogenicity
Neurodegeneration, infantile-onset, biotin-responsive
Health Risk
RS747165711
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2466022549
Likely pathogenic
Neurodegeneration, infantile-onset, biotin-responsive
Health Risk
RS2466102230
Likely pathogenic
Neurodegeneration, infantile-onset, biotin-responsive
Health Risk
RS774193816
Likely pathogenic
Neurodegeneration, infantile-onset, biotin-responsive
Health Risk
RS1558510783
Pathogenic
Squamous cell lung carcinoma, Cervical cancer, Squamous cell lung carcinoma
Health Risk
RS188933728
Pathogenic
Neurodegeneration, infantile-onset, biotin-responsive
Health Risk
RS2466069640
Pathogenic
Health Risk
RS370950187
Pathogenic
Neurodegeneration, infantile-onset, biotin-responsive
Health Risk
RS565711489
Pathogenic
Neurodegeneration, infantile-onset, biotin-responsive
Health Risk
RS994218778
Pathogenic
Neurodegeneration, infantile-onset, biotin-responsive
Health Risk
RS1274201044
Pathogenic/Likely pathogenic
Neurodegeneration, infantile-onset, biotin-responsive
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143540129 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration, infantile-onset, biotin-responsive |
| RS747165711 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2466022549 | Health Risk | Likely pathogenic | Neurodegeneration, infantile-onset, biotin-responsive |
| RS2466102230 | Health Risk | Likely pathogenic | Neurodegeneration, infantile-onset, biotin-responsive |
| RS774193816 | Health Risk | Likely pathogenic | Neurodegeneration, infantile-onset, biotin-responsive |
| RS1558510783 | Health Risk | Pathogenic | Squamous cell lung carcinoma, Cervical cancer, Squamous cell lung carcinoma |
| RS188933728 | Health Risk | Pathogenic | Neurodegeneration, infantile-onset, biotin-responsive |
| RS2466069640 | Health Risk | Pathogenic | — |
| RS370950187 | Health Risk | Pathogenic | Neurodegeneration, infantile-onset, biotin-responsive |
| RS565711489 | Health Risk | Pathogenic | Neurodegeneration, infantile-onset, biotin-responsive |
| RS994218778 | Health Risk | Pathogenic | Neurodegeneration, infantile-onset, biotin-responsive |
| RS1274201044 | Health Risk | Pathogenic/Likely pathogenic | Neurodegeneration, infantile-onset, biotin-responsive |
| RS2147992303 | Health Risk | Pathogenic/Likely pathogenic | Neurodegeneration, infantile-onset, biotin-responsive |
| RS749980819 | Health Risk | Pathogenic/Likely pathogenic | Neurodegeneration, infantile-onset, biotin-responsive |