| Gene Symbol | RS1 |
|---|---|
| Entrez Gene | 6247 |
| Alt Symbol | RS, XLRS1 |
| Species | Human |
| Gene Type | protein-coding |
| Description | retinoschisin 1 |
| Other Description | X-linked juvenile retinoschisis protein|retinoschisin |
| Swissprots | O15537 Q0QD39 |
| Accessions | AAC18405 ABK40506 EAW98942 O15537 AF014459 AAC17928 AL049684 BC140343 AAI40344 BC141638 AAI41639 BQ185379 BQ636812 DQ426892 ABD90543 NM_000330 NP_000321 |
| Function | May be active in cell adhesion processes during retinal development. |
| Subcellular Location | Secreted {ECO:0000269|PubMed:10915776}. |
| Tissue Specificity | Restricted to the retina (at protein level). At the mRNA level, detected only within the photoreceptor cell layer, most prominently within the inner segments of the photoreceptors. Undetectable in the inner plexiform layers and the inner nuclear layer. At the protein level, found in the inner segment of the photoreceptors, the inner nuclear layer, the inner plexiform layer and the ganglion cell layer. At the macula, expressed in both the outer and inner nuclear layers and in the inner plexiform layer (at protein level). {ECO:0000269|PubMed:10915776}. |
Human RS1 ORF Clone(NM_000330.3) - CDCL174305 from Creative Biomart
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