ACP2
Sign in to saveAlso known as acid phosphatase 2, lysosomal, LAP
Lysosomal acid phosphatase is an enzyme that in humans is encoded by the ACP2 gene.
Gene data
ACP2- Name
- acid phosphatase 2, lysosomal
- Type
- protein-coding
- Aliases
- LAP
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].
via MyGene.info
Gene · Ensembl
acid phosphatase 2, lysosomal
- Symbol
- ACP2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 11:47,237,598-47,249,288
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 1217
- exact match
- identifiers.org/ncbigene/53
- genomic end
- 47248906
- genomic start
- 47239302
- cytogenetic location
- 11p11.2|11p12-p11
Sources (3)
via Wikidata · CC0
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Article
3 sectionsContents
- References
- Further reading
- External links
Lysosomal acid phosphatase is an enzyme that in humans is encoded by the ACP2 gene.
Lysosomal acid phosphatase is composed of two subunits, alpha and beta, and is chemically and genetically distinct from red cell acid phosphatase. Lysosomal acid phosphatase 2 is a member of a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. Acid phosphatase deficiency is caused by mutations in the ACP2 (beta subunit) and ACP3 (alpha subunit) genes.