ACP4 Chromosome 19
Acid phosphatase 4
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What This Gene Does
Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Acid phosphatases
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000142513
Associated Conditions (2)
Amelogenesis imperfecta
type 1J
Key Variants
RS1212633515
Likely pathogenic
Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta
Health Risk
RS2513787207
Likely pathogenic
Health Risk
RS756274541
Likely pathogenic
Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta
Health Risk
RS1057519277
Pathogenic
Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta
Health Risk
RS1085307111
Pathogenic
Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta
Health Risk
RS546603773
Pathogenic
Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta
Health Risk
RS767907487
Pathogenic
Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta
Health Risk
RS779823931
Pathogenic
Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta
Health Risk
RS202073531
Pathogenic/Likely pathogenic
Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1212633515 | Health Risk | Likely pathogenic | Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta |
| RS2513787207 | Health Risk | Likely pathogenic | — |
| RS756274541 | Health Risk | Likely pathogenic | Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta |
| RS1057519277 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta |
| RS1085307111 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta |
| RS546603773 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta |
| RS767907487 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta |
| RS779823931 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta |
| RS202073531 | Health Risk | Pathogenic/Likely pathogenic | Amelogenesis imperfecta, type 1J, Amelogenesis imperfecta |