Gene: PIGX

Alternate names for this Gene: PIG-X

Gene Summary: This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Studies in rat indicate that the protein is translated from a non-AUG translation initiation site. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3q29

Description of this Gene: phosphatidylinositol glycan anchor biosynthesis class X

Type of Gene: protein-coding

Gene: CEP19

Alternate names for this Gene: C3orf34|MOSPGF

Gene Summary: The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2.

Gene is located in Chromosome: 3

Location in Chromosome : 3q29

Description of this Gene: centrosomal protein 19

Type of Gene: protein-coding

rs1553794304 in PIGX;CEP19 gene and Abnormal renal morphology PMID 29127258 2018 Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

rs1553794304 in PIGX;CEP19 gene and Bardet-Biedl Syndrome PMID 29127258 2018 Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

rs1553794304 in PIGX;CEP19 gene and Melanocortin 4 Receptor Deficiency PMID 29127258 2018 Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

rs1553794304 in PIGX;CEP19 gene and Polydactyly PMID 29127258 2018 Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

rs1553794304 in PIGX;CEP19 gene and Poor school performance PMID 29127258 2018 Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

rs1553794304 in PIGX;CEP19 gene and obsolete Rod-cone dystrophy PMID 29127258 2018 Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.