N-acetylglucosamine-1-phosphate transferase
Encyclopedia
N-acetylglucosamine-1-phosphate transferase is a transferase
enzyme.
It is associated with the following conditions:
In melanocytic cells GNPTG gene expression may be regulated by MITF
.
Transferase
In biochemistry, a transferase is an enzyme that catalyzes the transfer of a functional group from one molecule to another . For example, an enzyme that catalyzed this reaction would be a transferase:In this example, A would be the donor, and B would be the acceptor...
enzyme.
It is associated with the following conditions:
- mucolipidosis II alpha/beta (I-cell diseaseI-cell diseaseInclusion-cell disease, also referred to as mucolipidosis II , is part of the lysosomal storage disease family and results from a defective phosphotransferase . This enzyme transfers phosphate to mannose residues on specific proteins, and serves as a marker for them to be targeted to lysosomes...
) - GNPTAB - mucolipidosis III alpha/beta (pseudo-Hurler polydystrophyPseudo-Hurler polydystrophyPseudo-Hurler polydystrophy, also referred to as mucolipidosis III , is a lysosomal storage disease closely related to I-cell disease...
) - GNPTAB - mucolipidosis III gamma - GNPTG
In melanocytic cells GNPTG gene expression may be regulated by MITF
Microphthalmia-associated transcription factor
Microphthalmia-associated transcription factor is a basic helix-loop-helix leucine zipper transcription factor involved in melanocyte and osteoclast development.-Clinical significance:...
.