DPYSL2 Chromosome 8

Dihydropyrimidinase like 2
1 variant 1 Health Risk

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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
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