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.