8ceg | pdb_00008ceg
From Proteopedia
BAR domain protein FAM92A1 essential for mitochondrial membrane remodeling
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Structural highlights
DiseaseCBAR1_HUMAN Postaxial polydactyly type A. The disease may be caused by variants affecting the gene represented in this entry. FunctionCBAR1_HUMAN Acts as a positive regulator of ciliary hedgehog signaling (By similarity). Probable regulator of ciliogenesis involved in limb morphogenesis (PubMed:27528616, PubMed:30395363). In cooperation with CBY1 it is involved in the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis (PubMed:27528616, PubMed:30395363). Plays an important role in the mitochondrial function and is essential for maintaining mitochondrial morphology and inner membrane ultrastructure (PubMed:30404948). In vitro, can generate membrane curvature through preferential interaction with negatively charged phospholipids such as phosphatidylinositol 4,5-bisphosphate and cardiolipin and hence orchestrate cristae shape (PubMed:30404948).[UniProtKB:Q8BP22][1] [2] [3] References
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This page was last modified 08:52, 21 February 2024.