Dync1I2 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Dync1I2 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@hirokawa1998]
<div class="infobox infobox-gene"> [@kardon2009]
DYNC1I2 [@reckpeterson2019]
Dynein Cytoplasmic 1 Intermediate Chain 2
| | | [@maday2014] |---|---| [@stamp2018] | Symbol | DYNC1I2 | [@ebbing2008] | Full Name | Dynein Cytoplasmic 1 Intermediate Chain 2 | [@goldstein2008] | Chromosome | 4p15.32 | | NCBI Gene ID | [1780](https://www.ncbi.nlm.nih.gov/gene/1780) | | OMIM | [603166](https://www.omim.org/entry/603166) | | Ensembl ID | [ENSG00000077380](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000077380) | | UniProt ID | [Q86X29](https://www.uniprot.org/uniprot/Q86X29) | | Encoded Protein | [Dynein Intermediate Chain Protein](/proteins/dync1i2-protein) | | Associated Diseases | [Spinal Muscular Atrophy](/diseases/spinal-muscular-atrophy), [Charcot-Marie-Tooth Disease](/diseases/charcot-marie-tooth-disease), [Axonal Transport Defects](/mechanisms/axonal-transport-defects) |
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Function
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DYNC1I2 Gene
Overview
Dync1I2 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Dync1I2 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@hirokawa1998]
<div class="infobox infobox-gene"> [@kardon2009]
DYNC1I2 [@reckpeterson2019]
Dynein Cytoplasmic 1 Intermediate Chain 2
| | | [@maday2014] |---|---| [@stamp2018] | Symbol | DYNC1I2 | [@ebbing2008] | Full Name | Dynein Cytoplasmic 1 Intermediate Chain 2 | [@goldstein2008] | Chromosome | 4p15.32 | | NCBI Gene ID | [1780](https://www.ncbi.nlm.nih.gov/gene/1780) | | OMIM | [603166](https://www.omim.org/entry/603166) | | Ensembl ID | [ENSG00000077380](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000077380) | | UniProt ID | [Q86X29](https://www.uniprot.org/uniprot/Q86X29) | | Encoded Protein | [Dynein Intermediate Chain Protein](/proteins/dync1i2-protein) | | Associated Diseases | [Spinal Muscular Atrophy](/diseases/spinal-muscular-atrophy), [Charcot-Marie-Tooth Disease](/diseases/charcot-marie-tooth-disease), [Axonal Transport Defects](/mechanisms/axonal-transport-defects) |
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Function
The DYNC1I2 gene encodes Dynein Intermediate Chain Protein, a protein involved in various cellular processes relevant to neuronal function and survival. This gene is implicated in the pathogenesis of several neurodegenerative diseases.
Disease Associations
| Disease | Inheritance | Key Mutations | |---------|-------------|---------------| | Spinal Muscular Atrophy | Various | Pathogenic variants | | Charcot-Marie-Tooth Disease | Various | Pathogenic variants | | Axonal Transport Defects | Various | Pathogenic variants |
Expression
DYNC1I2 is expressed in various brain regions, with notable expression in:
Cerebral [cortex](/brain-regions/cortex)
[Hippocampus](/brain-regions/hippocampus)
Basal ganglia
[Cerebellum](/brain-regions/cerebellum)
Expression data is available from the [Allen Human Brain Atlas](https://human.brain-map.org/microarray/search/show?search_term=DYNC1I2).
[Spinal Muscular Atrophy](/diseases/spinal-muscular-atrophy), [Charcot-Marie-Tooth Disease](/diseases/charcot-marie-tooth-disease), [Axonal Transport Defects](/mechanisms/axonal-transport-defects)
Overview
Dync1I2 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Background
The study of Dync1I2 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.