| WASHC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | WASHC5 , RTSC, SPG8, RTSC1, KIAA0196, WASH complex subunit 5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 610657 MGI: 2146110 HomoloGene: 8898 GeneCards: WASHC5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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KIAA0196 (also known as strumpellin) is a human gene. [5] The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles. [6] Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia. [7]
The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.
Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.
Seipin is a protein that in humans is encoded by the BSCL2 gene.
Paraplegin is a protein that in humans is encoded by the SPG7 gene located on chromosome 16.
Spartin is a protein that in humans is encoded by the SPG20 gene.
Ubiquitin-associated protein 1 is a protein that in humans is encoded by the UBAP1 gene.
Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1 gene. This gene encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter. This protein is thought to play a role in nervous system development and maintenance. Alternative splice variants have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6.
Choline transporter-like protein 4 is a protein that in humans is encoded by the SLC44A4 gene.
Exportin-6 is a protein that in humans is encoded by the XPO6 gene.
Receptor expression-enhancing protein 2 is a protein that in humans is encoded by the REEP2 gene.
Methyltransferase-like protein 13 is an enzyme that in humans is encoded by the METTL13 gene.
G2/M phase-specific E3 ubiquitin-protein ligase is an enzyme that in humans is encoded by the G2E3 gene.
FYVE, RhoGEF and PH domain-containing protein 3 is a protein that in humans is encoded by the FGD3 gene.
Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 is a protein that in humans is encoded by the ACAP2 gene.
Maspardin is a protein that in humans is encoded by the SPG21 gene.
KIAA1166 is a human gene.
KIAA1411, also known as KIAA1411, is a human gene. It has one paralog, FAM135B.
Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene.
Tetratricopeptide repeat protein 35 is a protein that in humans is encoded by the TTC35 gene.
Spatacsin is a protein that in humans is encoded by the SPG11 gene.
 | This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it. |
