Features include: Recurrent corneal erosions, Clouding of the cornea (corneal dystrophy), Abnormality of metabolism/homeostasis, and Photophobia and 2 more.

CHST6 encodes carbohydrate sulfotransferase 6 (395 aa). Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan. Highest expression in Brain Spinal cord cervical c-1 (10.3 TPM) and Brain Substantia nigra (8.1 TPM).

Macular corneal dystrophy is caused by mutations in the CHST6 gene on chromosome 16.

The CHST6 protein participates in Defective CHST6 causes MCDC1 and Defective CHST6 does not transfer SO4(2-) to GlcNAc residues on keratan-PG pathways.

CHST6 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Genetic testing for CHST6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for macular corneal dystrophy has been reported in the published literature.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

No clinical trials have been registered for macular corneal dystrophy.

24 publications have been identified in PubMed for macular corneal dystrophy. Research spans Basic Science / Preclinical (38%), Review / Meta-Analysis (13%), and Case Report / Case Series (13%).