Disease relevance of PIGQ

• Here we cloned the mouse GPI1 gene and disrupted it in F9 embryonal carcinoma cells [1].

Psychiatry related information on PIGQ

• In contrast, expression of GPI-linked proteins is normal in lymphatic cell lines from individuals with the alpha thalassaemia/mental retardation syndrome, which is characterised by large deletions from chromosome 16p removing one of the two GPI1 alleles along with the haemoglobin alpha locus [2].

High impact information on PIGQ

• PIG-P, a 134-amino acid protein having two hydrophobic domains, associates with PIG-A and GPI1 [3].
• Here, we report cloning of a human homolog of GPI1 (hGPI1) and demonstrate that four mammalian gene products form a protein complex in the endoplasmic reticulum membrane [4].
• Therefore, GPI1 stabilizes the enzyme by tying up PIG-C with a complex of PIG-A and PIG-H [1].
• Two genes, gpi 1 and 2 encode for GPI, but only gpi1 is expressed during encystment [5].
• The allele frequencies of the AAT-2, GPD-2, and GPI-1 loci, were used in genetic comparisons of samples from the two stocks [6].

Biological context of PIGQ

• The locus (Gpi-1) controlling the more anodally migrated isozyme (GPI-1) was located on linkage group 1 (sex chromosome) of this species; the gene arrangement being Gpi-1--(18.2 map units)--To-2 (tetrazolium oxidase-2)--(27.3 map units)--M/m(sex)--(about 40 map units, as estimated by previous studies)--s (straw-colored larva) [7].

Other interactions of PIGQ

• A lack of GPI1 also caused partial decreases of PIG-C and PIG-H [1].

References