GPAA1 | definition of GPAA1 by Medical dictionary
GPAA1 A gene on chromosome 8q24.3 that encodes a protein essential for glycosylphosphatidylinositol (GPI) anchoring—but not synthesis—of precursor proteins. It is ubiquitously expressed in both foetal and adult tissues, but at higher levels in the former.
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References in periodicals archive
With specific focus on exonic regions of the genes and nonsynonymous mutations, "R" analysis demonstrated two genes that were within acceptable ExAC allele frequency and CADD score range (<0.01, >10): GPAA1 and RECQL4, suggestive of significant interaction with SLC39A4 in developing the disease phenotype in B03.
In addition we identified two rare and predicted deleterious genetic variants in SLC39A4 interacting partners which may have a role in the development of the particularly severe AE phenotype in our patient: RECQL4 and GPAA1 (Table 4).
In the absence of PIG-T, the expression levels of GPAA1
and PIG-K were very low, whereas PIG-S was expressed normally, indicating that PIG-T is critical for the stability of GPAA1