Gene: RAD23A

Alternate names for this Gene: HHR23A|HR23A

Gene Summary: The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair. Proteins in this family have a modular domain structure consisting of an ubiquitin-like domain (UbL), ubiquitin-associated domain 1 (UbA1), XPC-binding domain and UbA2. The protein encoded by this gene plays an important role in nucleotide excision repair and also in delivery of polyubiquitinated proteins to the proteasome. Alternative splicing results in multiple transcript variants encoding multiple isoforms.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: RAD23 homolog A, nucleotide excision repair protein

Type of Gene: protein-coding

Gene: CALR

Alternate names for this Gene: CRT|HEL-S-99n|RO|SSA|cC1qR

Gene Summary: Calreticulin is a highly conserved chaperone protein which resides primarily in the endoplasmic reticulum, and is involved in a variety of cellular processes, among them, cell adhesion. Additionally, it functions in protein folding quality control and calcium homeostasis. Calreticulin is also found in the nucleus, suggesting that it may have a role in transcription regulation. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin. Recurrent mutations in calreticulin have been linked to various neoplasms, including the myeloproliferative type.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: calreticulin

Type of Gene: protein-coding

rs1049481 in RAD23A;CALR gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.