H2AP Chromosome X

H2A.P histone

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a protein shown to interact with huntingtin, which contains an expanded polyglutamine tract in individuals with Huntington's disease (PMID: 9700202). [provided by RefSeq, Aug 2011]

Gene Info

Gene Group

H2A histones

Locus Type

gene with protein product

Location

Xp11.4

Ensembl

ENSG00000187516

Associated Conditions (1)

Short stature

Key Variants

RS1569148952

Pathogenic

Short stature, Short stature

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1569148952	Health Risk	Pathogenic	Short stature, Short stature