ATP6AP1 Chromosome X

ATPase H+ transporting accessory protein 1

27 variants 27 Health Risk

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What This Gene Does

This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]

Associated Conditions (5)

Immunodeficiency 47

ATP6AP1-related disorder

Intellectual disability

Inborn genetic diseases

ALG2-congenital disorder of glycosylation

Key Variants

RS1175778112

Conflicting classifications of pathogenicity

Immunodeficiency 47, Immunodeficiency 47

Health Risk

RS1284592695

Conflicting classifications of pathogenicity

Immunodeficiency 47, Immunodeficiency 47

Health Risk

RS148803059

Conflicting classifications of pathogenicity

Health Risk

RS1557196978

Conflicting classifications of pathogenicity

Immunodeficiency 47, Immunodeficiency 47

Health Risk

RS200943680

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS201620814

Conflicting classifications of pathogenicity

Health Risk

RS2148223097

Conflicting classifications of pathogenicity

Immunodeficiency 47, Immunodeficiency 47

Health Risk

RS781828275

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS781921302

Conflicting classifications of pathogenicity

Health Risk

RS781928490

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS782109311

Conflicting classifications of pathogenicity

Immunodeficiency 47, Immunodeficiency 47

Health Risk

RS782410042

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

All Variants (27)

RSID	Category	Clinical Significance	Conditions
RS1175778112	Health Risk	Conflicting classifications of pathogenicity	Immunodeficiency 47, Immunodeficiency 47
RS1284592695	Health Risk	Conflicting classifications of pathogenicity	Immunodeficiency 47, Immunodeficiency 47
RS148803059	Health Risk	Conflicting classifications of pathogenicity	ATP6AP1-related disorder, Intellectual disability, ATP6AP1-related disorder
RS1557196978	Health Risk	Conflicting classifications of pathogenicity	Immunodeficiency 47, Immunodeficiency 47
RS200943680	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS201620814	Health Risk	Conflicting classifications of pathogenicity	ATP6AP1-related disorder, ALG2-congenital disorder of glycosylation, ATP6AP1-related disorder
RS2148223097	Health Risk	Conflicting classifications of pathogenicity	Immunodeficiency 47, Immunodeficiency 47
RS781828275	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS781921302	Health Risk	Conflicting classifications of pathogenicity	—
RS781928490	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS782109311	Health Risk	Conflicting classifications of pathogenicity	Immunodeficiency 47, Immunodeficiency 47
RS782410042	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS782606567	Health Risk	Conflicting classifications of pathogenicity	Immunodeficiency 47, Immunodeficiency 47
RS782690014	Health Risk	Conflicting classifications of pathogenicity	ATP6AP1-related disorder, ATP6AP1-related disorder
RS992965475	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS2148221946	Health Risk	Likely pathogenic	Immunodeficiency 47, Immunodeficiency 47
RS2148221993	Health Risk	Likely pathogenic	—
RS2148224789	Health Risk	Likely pathogenic	—
RS2523016325	Health Risk	Likely pathogenic	Immunodeficiency 47, Immunodeficiency 47
RS2523017845	Health Risk	Likely pathogenic	Immunodeficiency 47, Immunodeficiency 47
RS2068680774	Health Risk	Pathogenic	Immunodeficiency 47, Immunodeficiency 47
RS2068705545	Health Risk	Pathogenic	Immunodeficiency 47, Immunodeficiency 47
RS2523016265	Health Risk	Pathogenic	Immunodeficiency 47, Immunodeficiency 47
RS878853275	Health Risk	Pathogenic	Immunodeficiency 47, Immunodeficiency 47
RS878853276	Health Risk	Pathogenic	Immunodeficiency 47, Immunodeficiency 47
RS878853278	Health Risk	Pathogenic	Immunodeficiency 47, Immunodeficiency 47
RS878853277	Health Risk	Pathogenic/Likely pathogenic	Immunodeficiency 47, Immunodeficiency 47