ATPAF2 Summary

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

ATPAF2 Details

Gene Symbol : ATPAF2

Gene Name : ATP synthase mitochondrial F1 complex assembly factor 2

Chromosome : CHR 17: 180,391,68-180,150,58

Locus : 17p11.2

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TOM1L2 Summary

This gene belongs to a small gene family whose members have an N-terminal VHS domain followed by a GAT domain; domains which typically participate in vesicular trafficking. The canonical protein encoded by this gene also has a C-terminal clathrin binding motif. This protein has been shown to interact with Tollip, clathrin and ubiquitin and is thought to play a role in endosomal sorting. This gene resides in the 3.7 Mb deletion of chromosome region 17p11.2 that is associated with Smith-Magenis syndrome. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Apr 2017]

TOM1L2 Details

Gene Symbol : TOM1L2

Gene Name : Target of myb1 like 2 membrane trafficking protein

Chromosome : CHR 17: 179,724,69-178,435,07

Locus : 17p11.2

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