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Rabbit Anti-TRAPPC9 antibody
This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive mental retardation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
Function:
TRAPPC9 functions as an activator of NF-kappa-B through increased phosphorylation of the IKK complex. It may also function in neuronal cells differentiation and play a role in vesicular transport from endoplasmic reticulum to Golgi.
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. Directly interacts with IKBKB and MAP3K14.
Subcellular Location:
Golgi apparatus; cis-Golgi network. Endoplasmic reticulum. Cytoplasm. Note: Processes and cell bodies of neurons.
Tissue Specificity:
Expressed at high levels in muscle and kidney and to a lower extent in brain, heart and placenta.
DISEASE:
Mental retardation, autosomal recessive 13 (MRT13) [MIM:613192]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Brain magnetic resonance imaging of MRT13 patients indicates the presence of mild cerebral white matter hypoplasia. Microcephaly is present in some but not all affected individuals. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the NIBP family.
SWISS:
Q96Q05
Gene ID:
83696
Database links:
Entrez Gene: 83696 Human
Omim: 611966 Human
SwissProt: Q96Q05 Human
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