| REEP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | REEP1 , C2orf23, HMN5B, SPG31, Yip2a, receptor accessory protein 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 609139 MGI: 1098827 HomoloGene: 41504 GeneCards: REEP1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene. [5] [6] [7]
Spastic paraplegia 31 is a neurodegenrative autosomal dominant disorder caused by mutations in this gene. [8] It is characterized by progressive weakness and spasticity of the lower limbs. The rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. The weakness and stiffness may spread to other parts of the body. Bladder incontinence may also occur. [8]
Sialomucin core protein 24 also known as endolyn or CD164 is a protein that in humans is encoded by the CD164 gene. CD164 functions as a cell adhesion molecule.
The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.
G-protein coupled receptor 39 is a protein that in humans is encoded by the GPR39 gene.
Prokineticin receptor 1, also known as PKR1, is a human protein encoded by the PROKR1 gene.
Probable G-protein coupled receptor 87 is a protein that in humans is encoded by the GPR87 gene.
Integral membrane protein GPR155, also known as G protein-coupled receptor 155, is a protein that in humans is encoded by the GPR155 gene. Mutations in this gene may be associated with autism.
Dynamin-3 is a protein that in humans is encoded by the DNM3 gene. The protein encoded by this gene is a member of the dynamin family which possess mechanochemical properties involved in actin-membrane processes, predominantly in membrane budding. DNM3 is upregulated in Sézary's syndrome.
Spartin is a protein that in humans is encoded by the SPG20 gene.
PHD finger protein 3 is a protein that in humans is encoded by the PHF3 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.
PERQ amino acid-rich with GYF domain-containing protein 2 is a protein that in humans is encoded by the GIGYF2 gene.
Serine/threonine-protein kinase Nek3 is an enzyme that in humans is encoded by the NEK3 gene.
Protein phosphatase Slingshot homolog 2 is an enzyme that in humans is encoded by the SSH2 gene.
Coiled-coil domain-containing protein 50 is a protein that in humans is encoded by the CCDC50 gene.
Receptor expression-enhancing protein 2 is a protein that in humans is encoded by the REEP2 gene.
KIAA0196 is a human gene. The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles. Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia.
Vesicular inhibitory amino acid transporter is a protein that in humans is encoded by the SLC32A1 gene.
Dual serine/threonine and tyrosine protein kinase is an enzyme that in humans is encoded by the DSTYK gene.
Maspardin is a protein that in humans is encoded by the SPG21 gene.
MARVEL domain-containing protein 2 is a protein that in humans is encoded by the MARVELD2 gene.
 | This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it. |
