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- Table of Contents
Facts about Nyctalopin.
Human | |
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Gene Name: | NYX |
Uniprot: | Q9GZU5 |
Entrez: | 60506 |
Belongs to: |
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small leucine-rich proteoglycan (SLRP) family |
Nyctalopin
Mass (kDA):
52 kDA
Human | |
---|---|
Location: | Xp11.4 |
Sequence: | X; NC_000023.11 (41447343..41475652) |
Expressed in kidney and retina. Also at low levels in brain, testis and muscle. Within the retina, expressed in the inner segment of photoreceptors, outer and inner nuclear layers and the ganglion cell layer.
Secreted, extracellular space, extracellular matrix.
PMID: 11062472 by Pusch C.M., et al. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
PMID: 11062471 by Bech-Hansen N.T., et al. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.