rs778859889

This variant is located in the PRODH gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters2 publications

Proline dehydrogenase deficiency; Proline dehydrogenase deficiency;Schizophrenia 4

About PRODH

This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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