rs35525135

This is a downstream gene variant variant in the MLEC gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

butyrylcarnitine (C4) measurement, parental genotype effect measurement

He Q et al. “A genome-wide association study of neonatal metabolites.” Cell Genomics 4(10):100668 (2024)

Allele C

OR 0.29

p 2.0e-24

N 8,744

Large GWAS

East Asian

About MLEC

This gene encodes the carbohydrate-binding protein malectin which is a Type I membrane-anchored endoplasmic reticulum protein. This protein has an affinity for Glc2Man9GlcNAc2 (G2M9) N-glycans and is involved in regulating glycosylation in the endoplasmic reticulum. This protein has also been shown to interact with ribophorin I and may be involved in the directing the degradation of misfolded proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

View all MLEC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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