GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: ACP1

id52
symbolACP1
organismHomo sapiens
full nameacid phosphatase 1
summaryThe product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]
variant-disease

NM_004300.4(ACP1):c.317A>G (p.Gln106Arg) AND ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF

NM_004300.4(ACP1):c.231+73G>A AND not provided

GRCh37/hg19 2p25.3(chr2:15672-657652)x1 AND not provided

GRCh37/hg19 2p25.3(chr2:192760-659746)x3 AND not provided

GRCh38/hg38 2p25.3(chr2:17019-283213)x3 AND See cases

... 49 more


Partner site how to get a snapshot of a web page on site-shot.com.