SCAPER

SCAPER (S-phase CyclinA Associated Protein residing in the Endoplasmic Reticulum) is a gene located on the long arm of chromosome 15 (15q24.3). It was first identified in 2007.[1]

Gene

This gene lies on the Crick strand and has 30 exons.

Protein

The gene encodes a 1399-amino acid protein with a predicted weight of 158 kiloDaltons. It has a C2H2-type zinc finger motif, a putative transmembrane domain, an ER retrieval signal at the C terminus, 4 coiled-coil domains, 6 potential RXL motifs and 6 consensus Cdk phosphorylation sites.

Biochemistry

The encoded protein is found in the nucleus and endoplasmic reticulum.

It is found in all tissues tested. It appears to have a role in the cell cycle.

Clinical significance

Mutations in this gene have been associated with intellectual disability and retinitis pigmentosa.[2][3][4]

gollark: Well, yes, but potatOS is not very susceptible to *other* malware.
gollark: Also, it'll crash if anyone supplies invalid data (not my problem, really).
gollark: Unfortunately, recv.lua cannot actually be a one-liner.
gollark: ```lua-- send.lua - dumps FS over channel supplied via command line argumentsskynet.send(..., fs.dump())```and```lua-- recv.lua - receives and loads FS dump over command-line-argumenty-supplied channellocal _, d = skynet.receive(...)fs.load(d)```
gollark: I mean, if you want, you could.

References
  1. Tsang WY, Wang L, Chen Z, Sánchez I, Dynlacht BD (2007) SCAPER, a novel cyclin A-interacting protein that regulates cell cycle progression. J Cell Biol 178(4):621-633
  2. Tatour Y, Sanchez-Navarro I, Chervinsky E, Hakonarson H, Gawi H, Tahsin-Swafiri S, Leibu R, Lopez-Molina MI, Fernandez-Sanz G, Ayuso C, Ben-Yosef, T (2017) Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. J Med Genet 54:698-704
  3. Jauregui R, Thomas AL, Liechty B, Velez G, Mahajan VB, Clark L, Tsang SH (2019) SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa. Am J Med Genet A 179(2):312-316
  4. Kahrizi K, Huber M, Galetzka D, Dewi S, Schröder J, Weis E, Kariminejad A, Fattahi Z, Ropers HH, Schweiger S, Najmabadi H, Winter J (2019) Homozygous variants in the gene SCAPER cause syndromic intellectual disability. Am J Med Genet A
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