Petter Espeseth Emhjellen

Insensitivity to skin pain, tickling, and spicy food in a woman with a pathogenic NAA10 variant: a case report

Abstract Background The NAA10 gene on the X chromosome encodes NAA10, the catalytic subunit of the N-terminal acetyltransferase complex NatA, which co-translationally acetylates nearly half the human proteome. From the variety of NAA10 substrates, one would surmise that the pheno...