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Definition of Chromosome 1
Medically reviewed by Min Clinic Staff | Updated: January 2026
Chromosome 1: The largest human chromosome, comprising approximately 10% of the human genome. Chromosome 1 contains over 240 million base pairs and over 3000 genes including the UROD gene for porphyria cutanea tarda, the GBA gene for Gaucher disease, the GLC1A gene for glaucoma, the HPC1 gene for prostate cancer, and the PS2 gene for Alzheimer disease.