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the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat

Diseases associated with ANO1 include frontal sinus squamous cell carcinoma and liver leiomyoma

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Read-through transcription also exists between this gene and the upstream COMM domain containing 3 (COMMD3) gene

Arylsulfatase A Polyclonal Antibody, 100ul Immune Cell Analysis Take control of your healthThe protein encoded by ARSA hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene.