Gene: LOC105370534

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: SPTB

Alternate names for this Gene: EL3|HS2|HSPTB1|SPH2

Gene Summary: This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 14

Location in Chromosome : 14q23.3

Description of this Gene: spectrin beta, erythrocytic

Type of Gene: protein-coding

rs147598882 in LOC105370534;SPTB gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.