TMED10
transmembrane p24 trafficking protein 10
Summary
This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complex's gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimer's disease. This gene has a pseudogene on chromosome 8. [provided by RefSeq, Jul 2008]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs780756789 | 14:75,601,655 | A/G | — | uncertain significance |
| rs2503571884 | 14:75,601,679 | C/G | — | uncertain significance |
| rs12435391 | 14:75,601,737 | A/G | regulatory region variant | benign |
| rs759543932 | 14:75,602,520 | T/C | — | uncertain significance |
| rs768624996 | 14:75,614,429 | T/C | — | uncertain significance |
| rs1252964357 | 14:75,618,761 | A/G | — | uncertain significance |
| rs910316 | 14:75,626,042 | A/C | regulatory region variant | — |
| rs568436451 | 14:75,631,319 | T/C | — | — |
| rs190193666 | 14:75,632,970 | C/T | intron variant | — |
| rs1187066353 | 14:75,643,084 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.