Solute carrier family 7, member 14 is a
protein that in humans is encoded by the SLC7A14
gene.
[5]
This gene is predicted to encode a
glycosylated, cationic amino acid
transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin
fibroblasts,
neural tissuee,
photoreceptor cells,
hair cells and primary
endothelial cells and its protein is predicted to mediate
lysosomal uptake of cationic amino acids. In mice, this gene is expressed in the
photoreceptor layer of the
retina where its
expression increases over the course of retinal development and persists in the mature retina. The gene is also highly expressed in all vertebrate hair cells. In the mammalian inner ear, this gene is expressed in neonatal inner and outer hair cells during development and becomes specifically expressed in inner hair cells in adult animals [6], [7].
Mutations in this gene are associated with autosomal recessive
retinitis pigmentosa and
hearing loss in the form of
auditory neuropathy.