INO80 Chromosome 15

INO80 complex ATPase subunit

3 variants 3 Health Risk

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What This Gene Does

This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Gene Info

Gene Group

"INO80 complex|SNF2 related family|DexD/H helicases"

Locus Type

gene with protein product

Location

15q15.1

Ensembl

ENSG00000128908

Associated Conditions (4)

Primary microcephaly

Seizure

Intellectual disability

INO80-related immunodeficiency

Key Variants

RS141223506

Conflicting classifications of pathogenicity

Health Risk

RS199722402

Likely pathogenic

Primary microcephaly, Seizure, Intellectual disability

Health Risk

RS730882226

Likely pathogenic

Primary microcephaly, Seizure, Intellectual disability

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS141223506	Health Risk	Conflicting classifications of pathogenicity	—
RS199722402	Health Risk	Likely pathogenic	Primary microcephaly, Seizure, Intellectual disability
RS730882226	Health Risk	Likely pathogenic	Primary microcephaly, Seizure, Intellectual disability