SLC7A14
Description
The SLC7A14 (solute carrier family 7 member 14) is a protein-coding gene located on chromosome 3.
SLC7A14, encoded by the SLC7A14 gene, is a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. It is primarily found in skin fibroblasts, neural tissue, photoreceptor cells, hair cells, and primary endothelial cells. SLC7A14 is predicted to mediate lysosomal uptake of cationic amino acids. In mice, SLC7A14 expression is prominent in the photoreceptor layer of the retina, increasing during retinal development and persisting in the mature retina. It is also highly expressed in all vertebrate hair cells. During development, SLC7A14 is expressed in both inner and outer hair cells of the mammalian inner ear but becomes specifically expressed in inner hair cells in adults. Mutations in the SLC7A14 gene are linked to autosomal recessive retinitis pigmentosa and auditory neuropathy, suggesting its crucial role in these sensory systems.
SLC7A14 imports 4-aminobutanoate (GABA) into lysosomes, potentially acting as a GABA sensor. This role may regulate mTORC2-dependent INS signaling and gluconeogenesis. However, the exact transport mechanism and substrate selectivity of SLC7A14 are yet to be fully understood.
SLC7A14 is also known as PPP1R142.
