Gene: SPTA1

Alternate names for this Gene: EL2|HPP|HS3|SPH3|SPTA

Gene Summary: This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.1

Description of this Gene: spectrin alpha, erythrocytic 1

Type of Gene: protein-coding

Gene: OR10Z1

Alternate names for this Gene: OR1-15

Gene Summary: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.1

Description of this Gene: olfactory receptor family 10 subfamily Z member 1

Type of Gene: protein-coding

rs12128171 in SPTA1;OR10Z1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs2479868 in SPTA1;OR10Z1 gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.