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| Id | http://purl.bioontology.org/ontology/MEDLINEPLUS/C1412367
http://purl.bioontology.org/ontology/MEDLINEPLUS/C1412367
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|---|---|
| Preferred Name | alsin Rho guanine nucleotide exchange factor ALS2 |
| Definitions |
The ALS2 gene provides instructions for making a protein called alsin. Alsin is produced in a wide range of tissues, with highest amounts in the brain. This protein is particularly abundant in motor neurons, the specialized nerve cells in the brain and spinal cord that control the movement of muscles.~Alsin turns on (activates) multiple proteins called GTPases that convert a molecule called GTP into another molecule called GDP. GTPases play important roles in cell division, the process by which cells mature to carry out specific functions (differentiation), and the self-destruction of cells (apoptosis). The GTPases play important roles in several cell processes. The GTPases that are activated by alsin are involved in the proper placement of the various proteins and fats that make up the cell membrane, the transport of molecules from the cell membrane to the interior of the cell (endocytosis), and the development of specialized structures called axons and dendrites that project from neurons and are essential for the transmission of nerve impulses.
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| Synonyms |
ALSJ
ALS2
PLSJ
KIAA1563
ALS2CR6
ALS2_HUMAN
amyotrophic lateral sclerosis 2 (juvenile)
IAHSP
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | The ALS2 gene provides instructions for making a protein called alsin. Alsin is produced in a wide range of tissues, with highest amounts in the brain. This protein is particularly abundant in motor neurons, the specialized nerve cells in the brain and spinal cord that control the movement of muscles.~Alsin turns on (activates) multiple proteins called GTPases that convert a molecule called GTP into another molecule called GDP. GTPases play important roles in cell division, the process by which cells mature to carry out specific functions (differentiation), and the self-destruction of cells (apoptosis). The GTPases play important roles in several cell processes. The GTPases that are activated by alsin are involved in the proper placement of the various proteins and fats that make up the cell membrane, the transport of molecules from the cell membrane to the interior of the cell (endocytosis), and the development of specialized structures called axons and dendrites that project from neurons and are essential for the transmission of nerve impulses. |
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| altLabel |
ALSJ
ALS2
PLSJ
KIAA1563
ALS2CR6
ALS2_HUMAN
amyotrophic lateral sclerosis 2 (juvenile)
IAHSP
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| prefLabel | alsin Rho guanine nucleotide exchange factor ALS2
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| DB XR ID | NCBI Gene:57679~OMIM:606352
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| Has associated condition | |
| type | |
| tui | T028
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| notation | C1412367
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| Semantic type UMLS property | |
| cui | C1412367
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