PhenoModifier-Gene Detail

Gene "ALG6"

Found 1 record

Gene information

Gene symbol:

ALG6

See related:

Ensembl: ENSG00000088035, Gene ID: 29929

Additive variants :

Detected

Genetic interaction partners

Confidence	Stringent (ε>0.16 or ε<-0.12)	Intermediate (-0.16≤ε≤-0.08 or 0.08≤ε≤0.16)	Lenient (\|ε\|<0.08)
Positive interactions	GGPS1 PFAS ASF1A SAC3D1 DDX11 ACTR6 RCOR1 SLC3A1 PUM3 ASH1L OVCA2 COQ2 TALDO1 LIPT2 DNAJC17 CHAC1 ABCF3 TMED9 DPH2 HIST2H4B ZFP42 KATNA1 RPL37 VPS13D HAGHL OMA1 CRLS1 RBMX2 STX2 HGH1 VPS8 EP400 PDXP MOCS3 GLRX2 RPS10 MRTO4 PRKG2 SLC13A4 PUS7L GEN1 VRK1 RMND5B KDM5C THNSL1 CHMP1A NAP1L1 SPRYD3 ENDOG PSD3 MUS81 PGM2L1 ZNF598 RPL24 DPH7 CCDC25 APIP CHAF1B MSH3 RTN4IP1 MAP3K4 ARHGEF2 MARCH6 SURF4 TRIP13 CDC25B UBE3C RPL14 H3F3C SDHB ARHGDIB PGLS GAPDH IMPDH1 PCSK9 PAPSS1 TDP1 CCNA2 IDH2 WDR76 DICER1 DPYSL2 ZFP36L2 SLC3A1 GRAMD2A SLC27A3 FKBP15 TOMM70 SLC11A2 SLC30A8 CMBL EMC3 TUBA3D UNC50 RPL26 show allhide
Negative interactions	ERN1 POMT2 MAP3K2 OSGEPL1 SCPEP1 USP14 HHATL SACM1L USP35 SRPK2 ZMPSTE24 PIGG SH3YL1 CANX NEK1 PGAP1 MLH1 TRMT1L WWOX NAA30 PLAA RPL7A RCE1 SRM OLA1 ATG5 ARL1 DNAJA3 PEX5L PPP6R3 PEX13 DTD1 WDR6 PEX12 RPL35 TAPT1 CWF19L1 LSM7 KIAA1109 GLRX3 PPM1L COG6 BBOX1 RPS21 UBA3 ALDH1L2 QPRT CWH43 YEATS4 KTI12 AADAT PEX1 ARHGAP35 GART RPS6KA1 ABHD5 RNF19A NAALAD2 MAN1A2 TMED10 MAPKAPK5 DBI EVI5 LCMT2 TPT1 USP35 FOXD3 MPC2 ADHFE1 ERCC6 IDH2 WDR1 CHD8 SHPRH SRF show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(1)

Modifier effect:

Altered severity(1)

Detail：

Variant 1:

ALG6:rs35383149

Gene:

ALG6

Genomic location:

dbSNP ID:

rs35383149

Target disease:

Congenital disorder of glycosylation(DOID_5212)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

Gene activity study

Effect:

This alteration is as severe as the most common disease-causing mutation

Reference:

PMID14517965

Title:

Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.

Species studied:

Human

Abstract:

Congenital Disorder of Glycosylation (CDG) type Ic is caused by mutations in ALG6. This gene encodes an alpha1,3 glucosyltransferase used for synthesis of the lipid linked oligosaccharide (LLO) precursor of the protein N-glycosylation pathway. CDG-Ic patients have moderate to severe psychomotor retardation, seizures, hypotonia, strabismus, and feeding difficulties. We previously identified a typical patient with a heterozygous point mutation, c.391T>C (p.Tyr131His) in ALG6. Using complementation analysis of ALG6-deficient yeast, we show that this alteration is as severe as the most common disease-causing mutation, c998C>T (p. Ala333Val), which occurs in over half of all known CDG-Ic patients. The frequency of c.391T>C (p.Tyr131His) in the US population, is 0.0214, suggesting that homozygotes would occur at a rate of& tilde;1:2,200. We identified one patient with typical CDG-Ic symptoms and a homozygous p.Tyr131His alteration in ALG6. However, in contrast to most CDG patients, her LLO and plasma transferrin glycosylation appeared normal. Thus, it is unclear whether c.391T>C causes CDG-Ic or contributes to the symptoms. Genotyping additional patients with CDG-like symptoms will be required to resolve this issue.