POLR3GL Chromosome 1

RNA polymerase III subunit GL

3 variants 3 Health Risk

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What This Gene Does

Predicted to enable chromatin binding activity. Involved in transcription by RNA polymerase III. Located in nucleus. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

RNA polymerase subunits

Locus Type

gene with protein product

Location

1q21.1

Ensembl

ENSG00000121851

Associated Conditions (8)

Short stature

oligodontia

dysmorphic facies

and motor delay

POLR3GL-related disorder

Oligodontia

Abnormal facial shape

Hyperostosis

Key Variants

RS1401599439

Pathogenic

Short stature, oligodontia, dysmorphic facies

Health Risk

RS782661984

Pathogenic

Oligodontia, Abnormal facial shape, Short stature

Health Risk

RS1553763618

Pathogenic/Likely pathogenic

Oligodontia, Abnormal facial shape, Short stature

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1401599439	Health Risk	Pathogenic	Short stature, oligodontia, dysmorphic facies
RS782661984	Health Risk	Pathogenic	Oligodontia, Abnormal facial shape, Short stature
RS1553763618	Health Risk	Pathogenic/Likely pathogenic	Oligodontia, Abnormal facial shape, Short stature