SLC6A6 gene

solute carrier family 6 member 6

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Sodium-dependent taurine and beta-alanine transporter. Chloride ions are necessary for optimal uptake.

From UniProt:

SLC6A6 defects may be the cause of early-onset retinal degeneration with or without cardiomyopathy, in association with severely reduced plasma taurine levels.

Cytogenetic Location: 3p25.1, which is the short (p) arm of chromosome 3 at position 25.1

Molecular Location: base pairs 14,402,576 to 14,489,349 on chromosome 3 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 3p25.1, which is the short (p) arm of chromosome 3 at position 25.1