SLC6A20 Chromosome 3
Solute carrier family 6 member 20
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What This Gene Does
Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene belongs to the sodium:neurotransmitter symporter (SNF) family and functions as a proline transporter expressed in kidney and small intestine. Mutations in this gene are associated with Hyperglycinuria and Iminoglycinuria. [provided by RefSeq, Jul 2020]
Gene Info
Gene Group
Solute carrier family 6
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000163817
Associated Conditions (2)
Hyperglycinuria
Iminoglycinuria
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149505473 | Health Risk | Conflicting classifications of pathogenicity | Hyperglycinuria, Iminoglycinuria, Hyperglycinuria |
| RS376448611 | Health Risk | Conflicting classifications of pathogenicity | Hyperglycinuria, Iminoglycinuria, Hyperglycinuria |