SLC6A17 Chromosome 1
Solute carrier family 6 member 17
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What This Gene Does
The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
Solute carrier family 6
Locus Type
gene with protein product
Location
1p13.3
Ensembl
ENSG00000197106
Associated Conditions (1)
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Key Variants
RS142470334
Conflicting classifications of pathogenicity
Health Risk
RS187996451
Conflicting classifications of pathogenicity
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome, Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Health Risk
RS188284006
Conflicting classifications of pathogenicity
Health Risk
RS201626646
Conflicting classifications of pathogenicity
Health Risk
RS375380880
Pathogenic
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome, Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Health Risk
RS775085213
Pathogenic
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome, Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142470334 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS187996451 | Health Risk | Conflicting classifications of pathogenicity | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome, Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome |
| RS188284006 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201626646 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375380880 | Health Risk | Pathogenic | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome, Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome |
| RS775085213 | Health Risk | Pathogenic | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome, Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome |