SPTA1, Official Symbol SPTA1provided by HGNC Official Full Name spectrin alpha, erythrocytic 1provided by HGNC Primary source HGNC:HGNC:11272 See related Ensembl:ENSG00000163554 MIM:182860; AllianceGenome:HGNC:11272 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EL2; HPP; HS3; SPH3; SPTA 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. [provided by RefSeq, Aug 2017] Expression Restricted expression toward bone marrow (RPKM 32.4) See more Orthologs mouse all