DPYSL2 Chromosome 8
Dihydropyrimidinase like 2
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What This Gene Does
This gene encodes a member of the collapsin response mediator protein family. Collapsin response mediator proteins form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. The encoded protein promotes microtubule assembly and is required for Sema3A-mediated growth cone collapse, and also plays a role in synaptic signaling through interactions with calcium channels. This gene has been implicated in multiple neurological disorders, and hyperphosphorylation of the encoded protein may play a key role in the development of Alzheimer's disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
"M38 metallopeptidases|Spectrin repeat containing"
Locus Type
gene with protein product
Location
8p21.2
Ensembl
ENSG00000092964
Associated Conditions (1)
Inborn genetic diseases
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138340807 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |