DPYSL5 Chromosome 2
Dihydropyrimidinase like 5
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What This Gene Does
This gene encodes a member of the CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A pseudogene of this gene is found on chromosome 11. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
M38 metallopeptidases
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000157851
Associated Conditions (2)
Ritscher-Schinzel syndrome 4
DPYSL5-related disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS866373727 | Health Risk | Pathogenic | Ritscher-Schinzel syndrome 4, DPYSL5-related disorder, Ritscher-Schinzel syndrome 4 |