SLC7A14 gene

solute carrier family 7 member 14

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. 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. [provided by RefSeq, Apr 2014]

From UniProt:

May be involved in arginine transport.

From NCBI Gene:

  • Retinitis pigmentosa 68

From UniProt:

Retinitis pigmentosa 68 (RP68): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. [MIM:615725]

Cytogenetic Location: 3q26.2, which is the long (q) arm of chromosome 3 at position 26.2

Molecular Location: base pairs 170,459,554 to 170,586,074 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q26.2, which is the long (q) arm of chromosome 3 at position 26.2
  • PPP1R142