ALG6 is a multipass endoplasmic reticulum membrane glucosyltransferase that catalyzes the first of three glucose additions during assembly of the dolichol-linked N-glycan precursor. Its lumen-facing reaction transfers glucose from dolichyl-phosphate-glucose to Man9GlcNAc2-PP-dolichol, forming an alpha-1,3 linkage and producing Glc1Man9GlcNAc2-PP-dolichol for subsequent glucosylation. This catalytic step supplies the mature glycan donor used by oligosaccharyltransferase in protein N-linked glycosylation. ALG6 belongs to the ALG6/ALG8 glucosyltransferase family (CAZy GT57). Biallelic pathogenic variants cause ALG6-congenital disorder of glycosylation, characterized biochemically by accumulation of unglucosylated lipid-linked precursor and protein hypoglycosylation.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| ALG6-congenital disorder of glycosylation | causative |
mechanism: ALG6 Alpha-1,3-Glucosyltransferase Deficiency; Biallelic Pathogenic ALG6 Variants
|
| Retinitis Pigmentosa 59 | modifier |
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| cystic kidney disease MONDO:0002473 | AD | Limited 2024-04-29 |
no dismech entry |
| ALG6-congenital disorder of glycosylation 1C MONDO:0011291 | AR | Definitive 2022-11-11 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.