ABCD1 p.Gly607Asp
| Predicted by SNAP2: | A: D (66%), C: D (63%), D: D (80%), E: D (85%), F: D (75%), H: D (80%), I: D (66%), K: D (85%), L: D (71%), M: D (63%), N: D (75%), P: D (80%), Q: D (71%), R: D (85%), S: D (63%), T: D (66%), V: D (66%), W: D (80%), Y: D (80%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Identification of a new fatty acid synthesis-trans... J Biol Chem. 2012 Jan 2;287(1):210-21. Epub 2011 Nov 1. Hillebrand M, Gersting SW, Lotz-Havla AS, Schafer A, Rosewich H, Valerius O, Muntau AC, Gartner J
Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane.
J Biol Chem. 2012 Jan 2;287(1):210-21. Epub 2011 Nov 1., [PMID:22045812]
Abstract [show]
The neurodegenerative disease X-linked adrenoleukodystrophy (X-ALD) is characterized by the abnormal accumulation of very long chain fatty acids. Mutations in the gene encoding the peroxisomal ATP-binding cassette half-transporter, adrenoleukodystrophy protein (ALDP), are the primary cause of X-ALD. To gain a better understanding of ALDP dysfunction, we searched for interaction partners of ALDP and identified binary interactions to proteins with functions in fatty acid synthesis (ACLY, FASN, and ACC) and activation (FATP4), constituting a thus far unknown fatty acid synthesis-transport machinery at the cytoplasmic side of the peroxisomal membrane. This machinery adds to the knowledge of the complex mechanisms of peroxisomal fatty acid metabolism at a molecular level and elucidates potential epigenetic mechanisms as regulatory processes in the pathogenesis and thus the clinical course of X-ALD.
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No. Sentence Comment
231 We analyzed, whether five missense mutations in the ABCD1 gene known to be associated with near normal ALDP protein amounts (G116R, S514N, G607D, G629H, and T693M) would induce edgetic perturbations by altering ALDP homo-oligomerization or the interaction of ALDP with FASN, ACLY, or FATP4 (Fig. 5).
X
ABCD1 p.Gly607Asp 22045812:231:139
status: NEW227 We analyzed, whether five missense mutations in the ABCD1 gene known to be associated with near normal ALDP protein amounts (G116R, S514N, G607D, G629H, and T693M) would induce edgetic perturbations by altering ALDP homo-oligomerization or the interaction of ALDP with FASN, ACLY, or FATP4 (Fig. 5).
X
ABCD1 p.Gly607Asp 22045812:227:139
status: NEW229 Conversely, S514N and G607D increased the BRET ratio for the interaction of ALDP with FASN, whereas G116R had the same effect on the interaction between ALDP and ACLY.
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ABCD1 p.Gly607Asp 22045812:229:139
status: NEW