Gene: DPAGT1

Alternate names for this Gene: ALG7|CDG-Ij|CDG1J|CMS13|CMSTA2|D11S366|DGPT|DPAGT|DPAGT2|G1PT|GPT|UAGT|UGAT

Gene Summary: The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.3

Description of this Gene: dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

Type of Gene: protein-coding

Gene: H2AX

Alternate names for this Gene: H2A.X|H2A/X|H2AFX

Gene Summary: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.3

Description of this Gene: H2A.X variant histone

Type of Gene: protein-coding