ACSL4 encodes acyl-CoA synthetase long chain family member 4 (711 aa). Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation. Highest expression in Cells EBV-transformed lymphocytes (52.6 TPM) and Cells Cultured fibroblasts (48.9 TPM).

Intellectual disability, X-linked 63 is associated with mutations in the ACSL4 gene on chromosome X.

The ACSL4 protein participates in ACSL3,4 ligate CoA to AA to form AA-CoA and Intracellular metabolism of fatty acids regulates insulin secretion pathways.

ACSL4 is classified as a druggable target (Enzyme category) with score 26.1.

14 pathogenic variants reported in ACSL4 in ClinVar.

Genetic testing for ACSL4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, X-linked 63 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 2 common features.

No clinical trials have been registered for intellectual disability, X-linked 63.

29 publications have been identified in PubMed for intellectual disability, X-linked 63. Research spans Epidemiology / Natural History (28%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (21%).

Recent Publications

• Zhao L (2026). [PMID: 41960028](https://pubmed.ncbi.nlm.nih.gov/41960028/). *Front Pediatr*. [Case Report / Case Series]

• Kuruppath P (2026). [PMID: 41559886](https://pubmed.ncbi.nlm.nih.gov/41559886/). *Eur J Neurosci*. [Review / Meta-Analysis]

• Liu N (2026). [PMID: 40884535](https://pubmed.ncbi.nlm.nih.gov/40884535/). *J Magn Reson Imaging*. [Epidemiology / Natural History]

• Babu A (2026). [PMID: 41190569](https://pubmed.ncbi.nlm.nih.gov/41190569/). *J Pediatr Ophthalmol Strabismus*. [Epidemiology / Natural History]

• Chaabouni M (2026). [PMID: 41854122](https://pubmed.ncbi.nlm.nih.gov/41854122/). *Clin Genet*. [Epidemiology / Natural History]

• Cuitavi J (2026). [PMID: 41526543](https://pubmed.ncbi.nlm.nih.gov/41526543/). *J Mol Med (Berl)*. [Basic Science / Preclinical]

• Ta D (2026). [PMID: 41535863](https://pubmed.ncbi.nlm.nih.gov/41535863/). *Orphanet J Rare Dis*. [Basic Science / Preclinical]

• Damiani F (2025). [PMID: 40220293](https://pubmed.ncbi.nlm.nih.gov/40220293/). *Cell Rep*. [Basic Science / Preclinical]

• Magaña-Acosta M (2025). [PMID: 41222108](https://pubmed.ncbi.nlm.nih.gov/41222108/). *Genesis*. [Review / Meta-Analysis]

• Galán-Olleros M (2025). [PMID: 38795288](https://pubmed.ncbi.nlm.nih.gov/38795288/). *J Autism Dev Disord*. [Epidemiology / Natural History]