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Gene : ACP2 Homo sapiens

Name  ? acid phosphatase 2, lysosomal Cytological Location  11p11.2|11p12-p11
Brief Description  acid phosphatase 2, lysosomal
description  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]
  • synonyms:
  • uc001nei.3,
  • LAP,
  • LAP,
  • ACP2,
  • NM_001610,
  • X15525,
  • HGNC:123,
  • OTTHUMG00000166949,
  • lysosomal acid phosphatase
  • identifiers:
  • 53,
  • ENSG00000134575,
  • ACP2

Genome feature

Region: gene ? Length: 9546  
Location: 11:47239302-47248847 reverse strand Cyto location: 11p11.2|11p12-p11


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Disease

1 Diseases

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2011 SN Ps

5 Cross References

19 Data Sets

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0 Located Features

90 Rna Seq Results