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- Table of Contents
Facts about Putative sodium-coupled neutral amino acid transporter 8.
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Human | |
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Gene Name: | SLC38A8 |
Uniprot: | A6NNN8 |
Entrez: | 146167 |
Belongs to: |
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amino acid/polyamine transporter 2 family |
Putative sodium-coupled neutral amino acid transporter 8
Mass (kDA):
46.731 kDA
Human | |
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Location: | 16q23.3 |
Sequence: | 16; NC_000016.10 (84009667..84043372, complement) |
Expressed in fetal and adult brain, and spinal cord. In the brain, it is localized in the cell body and axon of the majority of neuronal cells and in a subset of glial cells. Found throughout the neuronal retina, with higher expression levels in the inner and outer plexiform layers and the photoreceptor layer. Very weak expression is also present in the kidneys, thymus, and testes.
Membrane; Multi-pass membrane protein.
PMID: 24290379 by Poulter J.A., et al. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
PMID: 24045842 by Perez Y., et al. Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.