The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data.

Abstract:

:The CLN3 gene encodes an integral membrane protein of unknown function. Mutations in CLN3 can cause juvenile neuronal ceroid lipofuscinosis, or Batten disease, an inherited neurodegenerative lysosomal storage disease affecting children. Here, we report a topological study of the CLN3 protein using bioinformatic approaches constrained by experimental data. Our results suggest that CLN3 has a six transmembrane helix topology with cytoplasmic N and C-termini, three large lumenal loops, one of which may contain an amphipathic helix, and one large cytoplasmic loop. Surprisingly, varied topological predictions were made using different subsets of orthologous sequences, highlighting the challenges still remaining for bioinformatics.

journal_name

FEBS Lett

journal_title

FEBS letters

authors

Nugent T,Mole SE,Jones DT

doi

10.1016/j.febslet.2008.02.049

subject

Has Abstract

pub_date

2008-04-02 00:00:00

pages

1019-24

issue

7

eissn

0014-5793

issn

1873-3468

pii

S0014-5793(08)00164-6

journal_volume

582

pub_type

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