| Structural highlights
Disease
CBAR1_HUMAN Postaxial polydactyly type A. The disease may be caused by variants affecting the gene represented in this entry.
Function
CBAR1_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
- ↑ Li FQ, Chen X, Fisher C, Siller SS, Zelikman K, Kuriyama R, Takemaru KI. BAR Domain-Containing FAM92 Proteins Interact with Chibby1 To Facilitate Ciliogenesis. Mol Cell Biol. 2016 Oct 13;36(21):2668-2680. PMID:27528616 doi:10.1128/MCB.00160-16
- ↑ Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. J Bone Miner Res. 2019 Feb;34(2):375-386. PMID:30395363 doi:10.1002/jbmr.3594
- ↑ Wang L, Yan Z, Vihinen H, Eriksson O, Wang W, Soliymani R, Lu Y, Xue Y, Jokitalo E, Li J, Zhao H. FAM92A1 is a BAR domain protein required for mitochondrial ultrastructure and function. J Cell Biol. 2019 Jan 7;218(1):97-111. PMID:30404948 doi:10.1083/jcb.201806191
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