ACP2 acid phosphatase 2, lysosomal
Gene ID: 53, updated on 2-Mar-2024Gene type: protein coding
Also known as: LAP
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- Go to complete Gene record for ACP2
- Go to Variation Viewer for ACP2 variants
Summary
The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell acid phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene in mice showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2017]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Acid phosphatase deficiency | See labs |
Genomic context
- Location:
- 11p11.2; 11p12-p11
- Sequence:
- Chromosome: 11; NC_000011.10 (47239302..47248814, complement)
- Total number of exons:
- 12
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for ACP2 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ACP2 database
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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