SEC23B - Gene Detail
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| Gene Symbol | SEC23B | ||||||||||
| Synonyms | CDA-II | CDAII | CDAN2 | CWS7 | HEMPAS | hSec23B | ||||||||||
| Gene Description | SEC23B, SEC23 homolog B, COPII coat complex component, encodes an isoform of SEC23 that is involved in regulating the transport of proteins from the endoplasmic reticulum to the Golgi apparatus (PMID: 31595159, PMID: 18534853) and plays a role in erythrocyte differentiation and maturation (PMID: 19561605) and the regulation of autophagy (PMID: 30596474). Mutations in SEC23B have been identified in colorectal cancer (PMID: 32123160) and germline mutations in SEC23B have been identified in Cowden syndrome and thyroid cancer (PMID: 26522472). | ||||||||||
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