PGAP1 gene

post-GPI attachment to proteins 1

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

From NCBI Gene:

The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause of mental retardation, autosomal recessive 42. [provided by RefSeq, Mar 2016]

From UniProt:

Involved in inositol deacylation of GPI-anchored proteins. GPI inositol deacylation may important for efficient transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi.

From NCBI Gene:

  • Mental retardation, autosomal recessive 42

From UniProt:

Mental retardation, autosomal recessive 42 (MRT42): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. [MIM:615802]

Cytogenetic Location: 2q33.1, which is the long (q) arm of chromosome 2 at position 33.1

Molecular Location: base pairs 196,833,004 to 196,926,995 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q33.1, which is the long (q) arm of chromosome 2 at position 33.1
  • Bst1
  • ISPD3024
  • MRT42
  • SPG67