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Rabbit Anti-TRAPPC11 antibody
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]
Function:
Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage.
Subunit:
Component of the multisubunit TRAPP (transport protein particle) complex, which includes at least TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and TRAPPC12.
Subcellular Location:
Golgi apparatus; cis-Golgi network
DISEASE:
Limb-girdle muscular dystrophy 2S (LGMD2S) [MIM:615356]: A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the TRAPPC11 family.
SWISS:
Q7Z392
Gene ID:
60684
Database links:
Entrez Gene: 60684 Human
Entrez Gene: 64714 Mouse
Entrez Gene: 290746 Rat
Omim: 614138 Human
SwissProt: Q7Z392 Human
SwissProt: B2RXC1 Mouse
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