| TRAPPC11 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | TRAPPC11, C4orf41, FOIGR, GRY, LGMD2S, trafficking protein particle complex 11, LGMDR18, trafficking protein particle complex subunit 11 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 614138 MGI: 2444585 HomoloGene: 11076 GeneCards: TRAPPC11 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Trafficking protein particle complex 11 is a protein that in humans is encoded by the TRAPPC11 gene. [5]
Function
The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013].
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000168538 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038102 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: Trafficking protein particle complex 11". Retrieved 2017-10-11.
Further reading
- Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE (2013). "Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability". Am. J. Hum. Genet. 93 (1): 181–90. doi:10.1016/j.ajhg.2013.05.028. PMC 3710757. PMID 23830518.
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