Three novel homozygous mutations in the GNPTG
gene that cause mucolipidosis type III gamma.
BvM501 is enriched in functions related to glycoprotein metabolic processes and includes genes that code for various transferases such as N-acetylglucosamine-1-phosphotransferase subunit gamma (GNPTG
) , Betagalactoside alpha-2,6-sialyltransferase 1 (ST6GAL1) , and Beta-1,3-galactosyltransferase 6 (B3GALT6) .
(4) Diagnosis and typing of the mucolipidoses are performed by identifying specific enzyme level disparities between serum and cell extracts from cultured fibroblasts as well as through mutation analysis of the GNPTAB and GNPTG genes.
It is a product of 2 separate, unlinked genes: GNPTAB, on chromosome 12q23.3, and GNPTG, on chromosome 16p13.3.
Drayna found three gene variations called GNPTAB, GNPTG
and NAGPA that were common in people that have a stutter.
GNPTAB encodes its enzyme with the help of another gene called GNPTG. In addition, a second enzyme, called NAGPA, acts at the next step in this process.
Because of the close relationship among the three genes in this process, the GNPTG and NAGPA genes were the next logical place for the researchers to look for possible mutations in people who stutter.