gene: ACP1
| id | 52 |
|---|---|
| symbol | ACP1 |
| organism | Homo sapiens |
| full name | acid phosphatase 1 |
| summary | The 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 |
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