Gene Symbol | PGAP2 |
Entrez Gene ID | 27315 |
Full Name | post-GPI attachment to proteins 2 |
Synonyms | CWH43-N,FRAG1,HPMRS3,MRT17,MRT21 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017]. |
Disorder MIM: | |
Disorder Html: | Hyperphosphatasia with mental retardation syndrome 3, 614207 (3) |