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SLC25A24 gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC25A24 gene

The SLC25A24 gene encodes a mitochondrial ATP‑Mg/Pi carrier, and pathogenic mutations are linked to rare disorders such as Gorlin‑Chaudhry‑Moss syndrome and Fontaine (Petty‑type congenital progeroid) syndrome.

Overview

The SLC25A24 gene provides instructions for producing a protein that belongs to the solute carrier (SLC) family. Proteins in this family transport various compounds across cellular membranes. The protein produced from the SLC25A24 gene transports molecules across the inner membrane of the mitochondria, the energy‑producing centers of cells. It is known as an ATP‑Mg/Pi carrier because it moves ATP bound to magnesium (Mg) through the mitochondrial inner membrane in exchange for adding or removing phosphate (P) atoms. This exchange is essential for normal energy production, metabolism of various molecules, and protein synthesis within cells.

Health Conditions Related to Genetic Changes

Gorlin‑Chaudhry‑Moss syndrome

At least two mutations in the SLC25A24 gene have been found to cause Gorlin‑Chaudhry‑Moss syndrome. This condition, identified only in females, is characterized by skull abnormalities affecting head and facial shape, a lack of subcutaneous fatty tissue (lipodystrophy), excessive hair growth (hypertrichosis) on the face and body, shortened distal phalanges of the fingers and toes, and hypoplasia of the labia majora.

The causative mutations alter a single amino acid in the ATP‑Mg/Pi carrier protein: arginine at position 217 is replaced by histidine (Arg217His or R217H) or cysteine (Arg217Cys or R217C). These changes are thought to disrupt protein structure, reducing its ability to transport molecules across the mitochondrial inner membrane. Consequences include mitochondrial swelling, fragmentation, and a decrease in ATP production, leading to increased cell death. While altered cellular energy production and cell death likely underlie the syndrome’s features, the precise mechanisms linking these changes to the specific clinical signs remain unclear.

Other disorders

The same two SLC25A24 mutations described above have been identified in individuals with a similar disorder known as Fontaine syndrome or Petty‑type congenital progeroid syndrome. This syndrome shares many features of Gorlin‑Chaudhry‑Moss syndrome—skull abnormalities, lipoatrophy, and short distal phalanges—but differs by having normal genital development, sparse hair, and affecting both boys and girls equally. In contrast to Gorlin‑Chaudhry‑Moss syndrome, individuals with Fontaine syndrome typically do not survive past infancy.

It is unclear how the identical mutations can lead to distinct disorders. Researchers suspect that variations in other genes involved in mitochondrial function, as well as additional genetic and environmental factors, may influence the phenotype.

Other Names for This Gene

  • APC1
  • calcium-binding transporter
  • mitochondrial ATP‑Mg/Pi carrier protein 1
  • mitochondrial Ca2+‑dependent solute carrier protein 1
  • SCAMC‑1
  • short calcium-binding mitochondrial carrier 1
  • small calcium-binding mitochondrial carrier protein 1
  • solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

  • Tests of SLC25A24

Scientific Articles on PubMed

  • PubMed

Catalog of Genes and Diseases from OMIM

  • FONTAINE PROGEROID SYNDROME; FPS
  • SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 24; SLC25A24

Gene and Variant Databases

  • NCBI Gene
  • ClinVar

Genomic Location

The SLC25A24 gene is located on chromosome 1.

References

  • Ehmke N, Graul‑Neumann L, Smorag L, et al. De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am J Hum Genet. 2017 Nov 2;101(5):833‑843. doi:10.1016/j.ajhg.2017.09.016.
  • Run C, Yang Q, Liu Z, OuYang B, Chou JJ. Molecular Basis of MgATP Selectivity of the Mitochondrial SCaMC Carrier. Structure. 2015 Aug 4;23(8):1394‑1403. doi:10.1016/j.str.2015.06.004.
  • Velasco D, Olney AH, Starr L. SLC25A24 Fontaine Progeroid Syndrome. 2022 Jun 9. In: Adam MP, et al., editors. GeneReviews® (Internet). Seattle (WA): University of Washington; 1993‑2026. Available from: http://www.ncbi.nlm.nih.gov/books/NBK581082/.
  • Writzl K, Maver A, Kovacic L, et al. De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise. Am J Hum Genet. 2017 Nov 2;101(5):844‑855. doi:10.1016/j.ajhg.2017.09.017.

Frequently Asked Questions

Gorlin-Chaudhry-Moss syndrome, found only in females, is characterized by distinctive skull and facial abnormalities, a lack of subcutaneous fat (lipodystrophy), excessive hair growth on the face and body (hypertrichosis), shortened finger and toe bones, and underdeveloped labia majora.
The SLC25A24 gene provides instructions for a protein that transports ATP bound to magnesium and phosphate across the inner mitochondrial membrane. Mutations disrupt this transport, leading to mitochondrial dysfunction, swelling, fragmentation, and a significant decrease in ATP production, which is vital for cellular energy. This energy deficit and increased cell death contribute to the syndrome's features.
Currently, there is no specific cure for Gorlin-Chaudhry-Moss syndrome. Management focuses on addressing the specific symptoms and complications, which may include surgical interventions for skull abnormalities, dermatological care for skin and hair issues, and supportive therapies to improve overall quality of life.
While the exact inheritance pattern is still being fully elucidated, the fact that Gorlin-Chaudhry-Moss syndrome is identified only in females suggests it might be an X-linked dominant condition that is lethal in males, or a very rare autosomal dominant condition with sex-limited expression. Genetic counseling can help families understand the potential inheritance risks.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.