Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
SLC25A38

SLC25A38

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

What is the official name of the SLC25A38 gene?

The official name of this gene is “solute carrier family 25, member 38.”

SLC25A38 is the gene's official symbol. The SLC25A38 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SLC25A38 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia.[provided by RefSeq, Mar 2010]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Mitochondrial carrier required during erythropoiesis. Probably involved in the biosynthesis of heme, possibly by facilitating 5-aminolevulinate (ALA) production. May act by importing glycine into mitochondria or by exchanging glycine for ALA across the mitochondrial inner membrane.

How are changes in the SLC25A38 gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the SLC25A38 gene's known or predicted involvement in human disease.

Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive (PRARSA): A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the SLC25A38 gene.
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the SLC25A38 gene and its association with health conditions.
OMIM
Number
Title

Where is the SLC25A38 gene located?

Cytogenetic Location: 3p22.1

Molecular Location on chromosome 3: base pairs 39,383,323 to 39,397,327

The SLC25A38 gene is located on the short (p) arm of chromosome 3 at position 22.1.

The SLC25A38 gene is located on the short (p) arm of chromosome 3 at position 22.1.

More precisely, the SLC25A38 gene is located from base pair 39,383,323 to base pair 39,397,327 on chromosome 3.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SLC25A38?

You and your healthcare professional may find the following resources about SLC25A38 helpful.

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SLC25A38?

Ala ; anemia ; autosomal ; autosomal recessive ; bone marrow ; carrier ; chronic ; congenital ; erythropoiesis ; gene ; glycine ; heme ; hypochromic ; iron ; mitochondria ; nucleus ; peripheral ; protein ; recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

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? in the Handbook.

 
Published: December 22, 2014