background:
AMBRA1 regulates autophagy and development of the nervous system. It is a large, previously unknown protein bearing a WD40 domain at its amino terminus, regulates autophagy and has a crucial role in embryogenesis. AMBRA1 is a positive regulator of the Becn1-dependent programme of autophagy, as revealed by its overexpression and by RNA interference experiments invitro. Notably, AMBRA1 functional deficiency in mouse embryos leads to severe neural tube defects associated with autophagy impairment, accumulation of ubiquitinated proteins, unbalanced cell proliferation and excessive apoptotic cell death.
Function:
Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation.
Subunit:
Interacts with BECN1. Probably forms a complex with BECN1 and PIK3C3.
Subcellular Location:
Cytoplasmic vesicle, autophagosome.
Similarity:
Contains 3 WD repeats.
Database links:
Entrez Gene: 55626 Human
Entrez Gene: 228361 Mouse
Omim: 611359 Human
SwissProt: Q9C0C7 Human
SwissProt: A2AH22 Mouse
Unigene:
654644 Human
Unigene: 436667 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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