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Probable RNA methyltransferase (By similarity). Additionally we are shipping RNA (Guanine-9-) Methyltransferase Domain Containing 2 Proteins (3) and many more products for this protein.
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A homozygous G to T transition in exon 2 of gene TRMT10A at nucleotide position 79 of the coding sequence was identified in a family with young-adult onset diabetes with intellectual disability, microcephaly and epilepsy.
Homozygous deletion of TRMT10A is associated with a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus.
TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly.
This is the first study describing the impact of TRMT10A deficiency in mammals, highlighting a role in the pathogenesis of microcephaly and early onset diabetes.
Probable RNA methyltransferase (By similarity).
RNA (guanine-9-) methyltransferase domain containing 2
, similar to RNA (guanine-9-) methyltransferase domain containing 2
, RNA (guanine-9-)-methyltransferase domain-containing protein 2
, tRNA methyltransferase 10 homolog A