LTV1 Chromosome 6

LTV1 ribosome biogenesis factor

1 variant 1 Health Risk

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What This Gene Does

Predicted to be involved in ribosomal small subunit biogenesis and ribosomal small subunit export from nucleus. Located in cytosol and nucleoplasm. Implicated in inflammatory poikiloderma with hair abnormalities and acral keratoses. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

SSU processome

Locus Type

gene with protein product

Location

6q24.2

Ensembl

ENSG00000135521

Associated Conditions (1)

Inflammatory poikiloderma with hair abnormalities and acral keratoses

Key Variants

RS932818172

Pathogenic

Inflammatory poikiloderma with hair abnormalities and acral keratoses, Inflammatory poikiloderma with hair abnormalities and acral keratoses

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS932818172	Health Risk	Pathogenic	Inflammatory poikiloderma with hair abnormalities and acral keratoses, Inflammatory poikiloderma with hair abnormalities and acral keratoses