Gene: LOC105369780

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: RPS26

Alternate names for this Gene: DBA10|S26|eS26

Gene Summary: This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.2

Description of this Gene: ribosomal protein S26

Type of Gene: protein-coding

rs705705 in LOC105369780;RPS26 gene and Diabetes Mellitus, Insulin-Dependent PMID 25751624 2015 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

rs143951267 in LOC105369780;RPS26 gene and Diamond-Blackfan Anemia 10 PMID 24942156 2014 Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

PMID 20116044 2010 Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

PMID 26136524 2015 Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.