N-acetyltransferase 8B (Camello-like protein 2, NAT8B, CML2)

Function

• regulation of gastrulation (putative)

Structure

• belongs to the camello family
• contains 1 N-acetyltransferase domain

Compartment

membrane

Polymorphism

• nonsense mutation transforms Ser-16 into a stop codon, resulting in a truncated non-functional protein
• nonsense mutation transforms Gln-168 into a stop codon, resulting in disruption of the N-acetyltransferase domain rendering the enzyne inactive

More general terms

• acetyltransferase
• membrane protein

Database

• OMIM: https://mirror.omim.org/entry/608190
• UniProt: http://www.uniprot.org/uniprot/Q9UHF3.html