| 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; OMA:WASHC5 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.
Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog , also known as CDC73 and parafibromin, is a protein which in humans is encoded by the CDC73 gene.
Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.
Progressive ankylosis protein homolog is a protein that in humans is encoded by the ANKH gene.
The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development. Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain. AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development. An AHI1 heterozygous knockout mouse model was studied by Bernard Lerer and his group at Hadassah Medical Center in Jerusalem to elucidate the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and corticosterone secretions of the heterozygous knockout mice after exposure to environmental and visceral stress exhibited extreme repression of autonomic nervous system and hypothalamic-pituitary-adrenal responses. The knockout mice demonstrated an increased resilience to different types of stress and these results lead to a correlation between emotional regulation and neuropsychiatric disorders.
Seipin is a protein that in humans is encoded by the BSCL2 gene.
Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene.
EF-hand domain-containing protein 1 is a protein that in humans is encoded by the EFHC1 gene.
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.
Forkhead box protein N3 is a protein that in humans is encoded by the FOXN3 gene.
UV radiation resistance-associated gene protein is a protein that in humans is encoded by the UVRAG 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.
FYVE, RhoGEF and PH domain-containing protein 3 is a protein that in humans is encoded by the FGD3 gene.
Maspardin is a protein that in humans is encoded by the SPG21 gene.
Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene.
Protein POF1B is a protein that in humans is encoded by the POF1B gene.
Spatacsin is a protein that in humans is encoded by the SPG11 gene.
Bardet–Biedl syndrome 10, also known as BBS10 is a human gene.
 | This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it. |
