rs121918374

This is a variant in the PYCR1 gene that changes a arginine to an glutamine.

▶

ClinVar annotation

Pathogenic★★★☆

9 submitters9 publications

Autosomal recessive cutis laxa type 2B (ARCL2B); Cutis laxa; Inborn genetic diseases

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]

View all PYCR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…