rs767635052
This variant is located in the TH gene.
▶ClinVar annotation
Pathogenic★★★☆
6 submitters10 publicationsAutosomal recessive DOPA responsive dystonia
View on ClinVar →About TH
The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
View all TH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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