rs121918375

This is a variant in the PYCR1 gene that changes a glycine to an tryptophan.

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ClinVar annotation

Pathogenic
1 submitter4 publications

Autosomal recessive cutis laxa type 2B (ARCL2B)

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About PYCR1

This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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