SLC7A8
Description
The SLC7A8 (solute carrier family 7 member 8) is a protein-coding gene located on chromosome 14.
SLC7A8 gene encodes for the protein Large neutral amino acids transporter small subunit 2 in humans.
SLC7A8 forms a complex with SLC3A2, which functions as an amino acid antiporter. This complex transports small and large neutral amino acids with broad specificity. It facilitates the influx of extracellular essential amino acids in exchange for the efflux of intracellular amino acids. SLC7A8 exhibits symmetrical selectivities but asymmetrical substrate affinities, allowing it to regulate intracellular amino acid pools. It plays a role in reabsorbing neutral amino acids in the kidney and is involved in the uptake of methylmercury, nitrosothiols, and thyroid hormones. It may also participate in auditory function. The interaction of SLC7A8 with ICAM-1 regulates its activity.
SLC7A8 is also known as LAT2, LPI-PC1.
Associated Diseases
- low grade glioma
- hearing loss, autosomal recessive
- deafness, aminoglycoside-induced
- autosomal dominant nonsyndromic hearing loss 7
- autosomal dominant nonsyndromic hearing loss 17
- autosomal recessive nonsyndromic hearing loss 1B
- breast cancer
- autosomal dominant nonsyndromic hearing loss
- hearing loss, sensorineural, autosomal-mitochondrial type
