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  Domain Name: ABC_membrane_2
ABC transporter transmembrane region 2. This domain covers the transmembrane of a small family of ABC transporters and shares sequence similarity with pfam00664. Mutations in this domain in human ABCD3 (PMP70) are believed responsible for Zellweger Syndrome-2; mutations in human ABCD1 (ALD) are responsible for recessive X-linked adrenoleukodystrophy. A Saccharomyces cerevisiae homolog is involved in the import of long-chain fatty acids.
No pairwise interactions found for the domain ABC_membrane_2

Total Mutations Found: 7
Total Disease Mutations Found: 4
This domain occurred 4 times on human genes (6 proteins).



  ADRENOLEUKODYSTROPHY


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for ABC_membrane_2













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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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