SLC7A8 Chromosome 14

Solute carrier family 7 member 8
2 variants 2 Health Risk

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What This Gene Does
Enables several functions, including neutral L-amino acid transmembrane transporter activity; protein heterodimerization activity; and secondary active transmembrane transporter activity. Involved in L-alanine import across plasma membrane; L-leucine import across plasma membrane; and thyroid hormone transport. Located in basolateral plasma membrane and microvillus membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Solute carrier family 7
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000092068
Associated Conditions (1)
Short stature
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS752482499 Health Risk Likely pathogenic Short stature, Short stature
RS759951698 Health Risk Likely pathogenic Short stature, Short stature
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