4fmw

Structural highlights

Disease

[TM10A_HUMAN] Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome. The disease is caused by mutations affecting the gene represented in this entry.

Function

[TM10A_HUMAN] RNA methyltransferase.^[1]

References

1. ↑ Gillis D, Krishnamohan A, Yaacov B, Shaag A, Jackman JE, Elpeleg O. TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly. J Med Genet. 2014 Sep;51(9):581-6. doi: 10.1136/jmedgenet-2014-102282. Epub 2014 , Jul 22. PMID:25053765 doi:http://dx.doi.org/10.1136/jmedgenet-2014-102282