PIGU gene

phosphatidylinositol glycan anchor biosynthesis class U

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]

From UniProt:

Component of the GPI transamidase complex. May be involved in the recognition of either the GPI attachment signal or the lipid portion of GPI.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Glycosylphosphatidylinositol biosynthesis defect 21

From UniProt:

Glycosylphosphatidylinositol biosynthesis defect 21 (GPIBD21): An autosomal recessive disorder characterized by global developmental delay, severe-to-profound intellectual disability, muscular hypotonia, seizures, brain anomalies, including thin corpus callosum and cerebellar atrophy, scoliosis, and mild facial dysmorphism. [MIM:618590]

Cytogenetic Location: 20q11.22, which is the long (q) arm of chromosome 20 at position 11.22

Molecular Location: base pairs 34,560,542 to 34,677,103 on chromosome 20 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 20q11.22, which is the long (q) arm of chromosome 20 at position 11.22
  • CDC91L1
  • GAB1
  • GPIBD21
  • NEDBSS