WDR83OS Chromosome 19

WD repeat domain 83 opposite strand
1 variant 1 Health Risk

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What This Gene Does
Enables protein folding chaperone. Involved in multi-pass transmembrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of multi-pass translocon complex and protein folding chaperone complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
PAT complex subunits
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000105583
Associated Conditions (2)
Hypercholanemia
familial
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2024315415 Health Risk Pathogenic Hypercholanemia, familial, Hypercholanemia
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