| Tbio | Lysosomal acid phosphatase |
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Acid Phosphatase Deficiency | 1 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Autosomal recessive predisposition | 1442 |
| Bleeding tendency | 37 |
| Muscle hypotonia | 571 |
| Opisthotonus | 14 |
| Vomiting | 116 |
| Disease | Target Count | P-value |
|---|---|---|
| malignant mesothelioma | 3232 | 2.4e-06 |
| ovarian cancer | 8520 | 1.6e-04 |
| lung cancer | 4740 | 1.5e-02 |
| non primary Sjogren syndrome sicca | 891 | 3.4e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Atrichia with papular lesions | 9 | 3.777 | 1.9 |
| inclusion-cell disease | 16 | 3.439 | 1.7 |
| Batten disease | 13 | 3.265 | 1.6 |
| Amyotrophic lateral sclerosis type 8 | 10 | 3.12 | 1.6 |
| Keratoconus | 113 | 3.029 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| lung cancer | 1.300 | 1.5e-02 |
| malignant mesothelioma | -1.300 | 2.4e-06 |
| non primary Sjogren syndrome sicca | 1.100 | 3.4e-02 |
| ovarian cancer | 1.300 | 1.6e-04 |
MAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLLYRHGDRSPVKTYPKDPYQEEEWPQGFGQLTK 1 - 70 EGMLQHWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIP 71 - 140 VHTVPITEDRLLKFPLGPCPRYEQLQNETRQTPEYQNESSRNAQFLDMVANETGLTDLTLETVWNVYDTL 141 - 210 FCEQTHGLRLPPWASPQTMQRLSRLKDFSFRFLFGIYQQAEKARLQGGVLLAQIRKNLTLMATTSQLPKL 211 - 280 LVYSAHDTTLVALQMALDVYNGEQAPYASCHIFELYQEDSGNFSVEMYFRNESDKAPWPLSLPGCPHRCP 281 - 350 LQDFLRLTEPVVPKDWQQECQLASGPADTEVIVALAVCGSILFLLIVLLLTVLFRMQAQPPGYRHVADGE 351 - 420 DHA 421 - 423 //
