ABCD1 p.Ala57Val
| Predicted by SNAP2: | C: N (97%), D: N (93%), E: N (97%), F: N (82%), G: N (93%), H: N (93%), I: N (97%), K: N (97%), L: N (97%), M: N (93%), N: N (97%), P: N (93%), Q: N (97%), R: N (93%), S: N (97%), T: N (97%), V: N (97%), W: N (72%), Y: N (87%), |
| Predicted by PROVEAN: | C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[hide] The gene responsible for adrenoleukodystrophy enco... Hum Mol Genet. 1994 Feb;3(2):265-71. Mosser J, Lutz Y, Stoeckel ME, Sarde CO, Kretz C, Douar AM, Lopez J, Aubourg P, Mandel JL
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein.
Hum Mol Genet. 1994 Feb;3(2):265-71., [PMID:8004093]
Abstract [show]
Adrenoleukodystrophy is a severe genetic demyelinating disease associated with an impairment of beta-oxidation of very long chain fatty acids (VLCFA) in peroxisomes. Earlier studies had suggested that a deficiency in VLCFA CoA synthetase was the primary defect. A candidate adrenoleukodystrophy gene has recently been cloned and was found unexpectedly to encode a putative ATP-binding cassette transporter. We have raised monoclonal antibodies against this protein, that detect a 75kDa band. This protein was absent in several patients with adrenoleukodystrophy. Immunofluorescence and immunoelectron microscopy showed that the adrenoleukodystrophy protein (ALDP) is associated with the peroxisomal membrane. Distinct immunofluorescence patterns were observed in cell lines from patients with Zellweger syndrome (a peroxisomal biogenesis disorder) belonging to different complementation groups.
Comments [show]
None has been submitted yet.
No. Sentence Comment
27 The three constructs contain the sequences corresponding to codons Ala 57 to Val 301 (AC25), Leu 279 to Val 482 (AC 13) and De 495 to Lys 648 (AC3), respectively (fig. 1).
X
ABCD1 p.Ala57Val 8004093:27:67
status: NEW