SLC6A6 Chromosome 3
Solute carrier family 6 member 6
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What This Gene Does
This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Gene Info
Gene Group
Solute carrier family 6
Locus Type
gene with protein product
Location
3p25.1
Ensembl
ENSG00000131389
Associated Conditions (2)
Retinal degeneration
Hypotaurinemic retinal degeneration and cardiomyopathy
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1700769766 | Health Risk | Likely pathogenic | Retinal degeneration, Hypotaurinemic retinal degeneration and cardiomyopathy, Retinal degeneration |
| RS754954058 | Health Risk | Likely pathogenic | Retinal degeneration, Hypotaurinemic retinal degeneration and cardiomyopathy, Retinal degeneration |