GNPTAB across dismech

GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) is named by 3 disorder entries.

Normal function

GNPTAB encodes the catalytic alpha/beta subunits of GlcNAc-1-phosphotransferase, the Golgi enzyme that makes the mannose 6-phosphate signal routing soluble acid hydrolases to lysosomes. The pinned ai-gene-review snapshot has no core functions for GNPTAB yet (0 terms); an upstream review is being added.

Causative records

Two entries type GNPTAB as causative: Mucolipidosis Type II; and Mucolipidosis Type III Alpha/Beta, and both record the variants as germline (Mucolipidosis Type II; and Mucolipidosis Type III Alpha/Beta). In Mucolipidosis Type II the gene sits on the node GlcNAc-1-Phosphotransferase Deficiency and Mannose-6-Phosphate Targeting Failure, and in Mucolipidosis Type III Alpha/Beta on GNPTAB phosphotransferase deficiency. These nodes conform to the module lysosomal_substrate_accumulation, and the KB annotates them with N-glycan processing to lysosome; and protein targeting to lysosome.

Other records

Developmental Stuttering records GNPTAB as a susceptibility gene, with no variant origin recorded (unrecorded).

Where the layers disagree

ClinGen classifies GNPTAB for 1 disease, GNPTAB-mucolipidosis, a lumped term covering both mucolipidosis entries; neither entry uses it as its disease term, so the ClinGen tier is not copied onto either.