rs758270248

This variant is located in the SLC7A7 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Lysinuric protein intolerance; Inborn genetic diseases

About SLC7A7

The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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