SLC7A14

Solute carrier family 7, member 14
Identifiers
Symbols SLC7A14 ; PPP1R142
External IDs OMIM: 615720 HomoloGene: 76320 IUPHAR: 895 GeneCards: SLC7A14 Gene
Orthologs
Species Human Mouse
Entrez 57709 241919
Ensembl ENSG00000013293 ENSMUSG00000069072
UniProt Q8TBB6 Q8BXR1
RefSeq (mRNA) NM_020949 NM_172861
RefSeq (protein) NP_066000 NP_766449
Location (UCSC) Chr 3:
170.46 – 170.59 Mb
Chr 3:
31.2 – 31.31 Mb
PubMed search

Solute carrier family 7, member 14 is a protein that in humans is encoded by the SLC7A14 gene. [1]

Function

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].

References

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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