ZNHIT3 Chromosome 17

Zinc finger HIT-type containing 3

1 variant 1 Health Risk

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What This Gene Does

Predicted to enable nuclear thyroid hormone receptor binding activity. Predicted to be involved in box C/D snoRNP assembly; maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); and snoRNA localization. Located in cytoplasm and nucleus. Implicated in PEHO syndrome. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

Zinc fingers HIT-type

Locus Type

gene with protein product

Location

17q12

Ensembl

ENSG00000273611

Associated Conditions (1)

PEHO syndrome

Key Variants

RS148890852

Likely pathogenic

PEHO syndrome, PEHO syndrome

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS148890852	Health Risk	Likely pathogenic	PEHO syndrome, PEHO syndrome