Tuesday, January 8, 2013

Why not work on ... ?

The human gene TMCO1 ("transmembrane and coiled-coil domains 1") is associated with "Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome" (NCBI OMIM Entry 614132). The summary at NCBI Entrez Gene suggests the gene is also associated with "open angle glaucoma blindness" (it  looks like this is based on GWAS data).

The fly gene CG10470 scores a 10 out of 10 for ortholog match to TMCO1 (i.e. 10 out of 10 tools/algorithms represented at DIOPT predict an ortholog relationship between TMCO1 and CG10470). Screenshots of the DIOPT-DIST results and alignment are shown below.

Currently, it looks like little is known about the normal function of the human or fly genes. Will you be the person who sheds light on function of this disease-relevant gene?

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