PGAP2 post-GPI attachment to proteins 2

Gene ID: 27315, updated on 17-Jun-2024
Gene type: protein coding
Also known as: FRAG1; MRT17; MRT21; HPMRS3; CWH43-N

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Hyperphosphatasia with intellectual disability syndrome 3 MedGen: C3280153OMIM: 614207GeneReviews: Not available	See labs

Genomic context

Location:: 11p15.4

Sequence:: Chromosome: 11; NC_000011.10 (3797724..3826371)

Total number of exons:: 14

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PGAP2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PGAP2 @ LOVD
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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