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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

SPTA1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the SPTA1 gene?

The official name of this gene is “spectrin, alpha, erythrocytic 1.”

SPTA1 is the gene's official symbol. The SPTA1 gene is also known by other names, listed below.

What is the normal function of the SPTA1 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6708):

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided by RefSeq, Jul 2008]

From UniProt (http://www.uniprot.org/uniprot/P02549):

Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.

How are changes in the SPTA1 gene related to health conditions?

Genetics Home Reference provides information about hereditary spherocytosis, which is associated with changes in the SPTA1 gene.
UniProt (http://www.uniprot.org/uniprot/P02549) provides the following information about the SPTA1 gene's known or predicted involvement in human disease.

Elliptocytosis 2 (EL2): A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. The disease is caused by mutations affecting the gene represented in this entry.

Hereditary pyropoikilocytosis (HPP): Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. The disease is caused by mutations affecting the gene represented in this entry.

Spherocytosis 3 (SPH3): Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6708) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the SPTA1 gene.
  • Elliptocytosis 2
  • Hereditary pyropoikilocytosis
  • Spherocytosis type 3
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the SPTA1 gene and its association with health conditions.
OMIM
Number
Title

Where is the SPTA1 gene located?

Cytogenetic Location: 1q21

Molecular Location on chromosome 1: base pairs 158,610,497 to 158,686,715

The SPTA1 gene is located on the long (q) arm of chromosome 1 at position 21.

The SPTA1 gene is located on the long (q) arm of chromosome 1 at position 21.

More precisely, the SPTA1 gene is located from base pair 158,610,497 to base pair 158,686,715 on chromosome 1.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SPTA1?

You and your healthcare professional may find the following resources about SPTA1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SPTA1 gene or gene products?

  • EL2
  • HPP
  • HS3
  • SPH3
  • SPTA

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SPTA1?

actin ; anemia ; autosomal ; autosomal dominant ; autosomal recessive ; cell ; chronic ; cytoskeleton ; dimer ; erythrocyte ; gene ; hemolytic anemia ; hereditary ; inheritance ; plasma ; plasma membrane ; protein ; recessive ; red blood cell ; red cells ; sensitivity ; transmembrane

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: March 30, 2015