SLC7A14: Difference between revisions
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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]. |
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]. |
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== References == |
== References == |
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== Further |
== Further reading == |
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Revision as of 06:03, 15 August 2014
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
- ^
"Entrez Gene: Solute carrier family 7, member 14". Retrieved 2014-08-12T06:57:06.149762-08:00.
{{cite web}}: Check date values in:|accessdate=(help)
Further reading
- Attention: This template ({{cite pmid}}) is deprecated. To cite the publication identified by PMID 19389623 , please use {{cite journal}} with
|pmid=19389623instead. - Attention: This template ({{cite pmid}}) is deprecated. To cite the publication identified by PMID 22787143 , please use {{cite journal}} with
|pmid=22787143instead.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
 | This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it. |
 | This article has not been added to any content categories. Please help out by adding categories to it so that it can be listed with similar articles, in addition to a stub category. (August 2014) |