| Transmembrane Emp24 Transport Domain-containing Protein 10 | OKDB#: 3179 |
| Symbols: | TMED10 | Species: | human | ||
| Synonyms: | TMP21, S31I125, Tmp-21-I, S31III125, P24(DELTA),TRANSMEMBRANE TRAFFICKING PROTEIN, 21-KD, TMP21 | Locus: | 14q24.3 in Homo sapiens |
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| General Comment | NCBI 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. | ||||
| General function | Channel/transport protein | ||||
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| Follicle stages | Primordial | ||||
| Comment | Arraztoa JA, et al 2005 reported the identification of genes expressed in primate primordial oocytes. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | June 21, 2006, 11:42 a.m. | by: |
alex email:
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| last update: | June 21, 2006, 1:27 p.m. | by: | alex email: |
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