ATP6AP2 ATPase H+ transporting accessory protein 2

Gene ID: 10159, updated on 1-Aug-2024
Gene type: protein coding
Also known as: PRR; M8-9; MRXE; RENR; XMRE; XPDS; CDG2R; HT028; MRXSH; ELDF10; ATP6IP2; MSTP009; APT6M8-9; ATP6M8-9

Summary

This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital disorder of glycosylation, type IIr MedGen: C5393313OMIM: 301045GeneReviews: Not available	See labs
Syndromic X-linked intellectual disability Hedera type MedGen: C1845543OMIM: 300423GeneReviews: Not available	See labs
X-linked parkinsonism-spasticity syndrome MedGen: C3806722OMIM: 300911GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-10-31) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-10-31) ClinGen Genome Curation Page

Genomic context

Location:: Xp11.4

Sequence:: Chromosome: X; NC_000023.11 (40580970..40606848)

Total number of exons:: 9

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ATP6AP2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ATP6AP2 @ LOVD
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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