Pyrroline-5-Carboxylate Reductase 2

Alternative Names

PYCR2

Length

4,464 bases

No. of Exons

No. of isoforms

Protein Name

Pyrroline-5-carboxylate reductase 2

Molecular Mass

33637 Da

Amino Acid Count

320

Genomic Location

chr1:225,919,877-225,924,340

Gene Map Locus

1q42.12

Description

This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [From ReSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_013328.4:c.28C>T	United Arab Emirates	NC_000001.11:g.225924083G>A		Likely Pathogenic	Leukodystrophy, Hypomyelinating, 10	NG_044963.1:g.5258C>T; NM_013328.4:c.28C>T; NP_037460.2:p.Gln10Ter	1213814230
NM_013328.4:c.796C>T	Morocco; United Arab E...	NC_000001.11:g.225921209G>A	Pathogenic	Likely Pathogenic, Pathogenic	Leukodystrophy, Hypomyelinating, 10	NG_044963.1:g.8132C>T; NM_013328.4:c.796C>T; NP_037460.2:p.Arg266Ter	886037931	254247

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External Links

https://ghr.nlm.nih.gov/gene/PYCR2 https://www.genecards.org/cgi-bin/carddisp.pl?gene=PYCR2 https://www.ncbi.nlm.nih.gov/gene/29920

Contributors

Pratibha Nair: 30.06.2022
Pratibha Nair: 14.07.2020

Edit History

Pratibha Nair: 30.06.2022
Pratibha Nair: 14.07.2020

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