Features include always present findings: Delayed speech and language development, Dysmetria, Shrinkage of the cerebellum (cerebellar atrophy), and Low muscle tone (hypotonia) and others. 13 total HPO annotations.

CRAT encodes carnitine O-acetyltransferase (626 aa). Catalyzes the reversible transfer of acyl groups from carnitine to coenzyme A (CoA) and regulates the acyl-CoA/CoA ratio. Also plays a crucial role in the transport of fatty acids for beta-oxidation. Highest expression in Testis (285.7 TPM) and Muscle Skeletal (120.5 TPM).

Neurodegeneration with brain iron accumulation 8 is associated with mutations in the CRAT gene on chromosome 9.

The CRAT protein participates in CRAT transfers ISB to CAR, propionyl-CoA + carnitine = propionylcarnitine + CoASH, and acetyl-CoA + carnitine = acetylcarnitine + CoASH pathways.

CRAT is classified as a druggable target (Druggable Genome and Enzyme categories) with score 26.1.

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

Biomarker and diagnostic research for neurodegeneration with brain iron accumulation 8 has been reported in the published literature.

Phenotype severity distribution: 12 always present features.

No clinical trials have been registered for neurodegeneration with brain iron accumulation 8.

20 publications have been identified in PubMed for neurodegeneration with brain iron accumulation 8. Research spans Basic Science / Preclinical (35%), Diagnostic / Biomarker (25%), and Review / Meta-Analysis (25%).