PYCR2 - pyrroline-5-carboxylate reductase 2 Gene

Also Known as HLD10; P5CR2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 29920

About PYCR2

Cytogenetic location: 1q42.12 Genomic coordinates (GRCh38): 1:225,919,878-225,924,250 (from NCBI)

This gene has 8 transcripts (splice variants), 285 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 27.1), spleen (RPKM 24.2) and 25 other tissues.

Summary

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. [provided by RefSeq, Nov 2012]

PYCR2 Products (2)

mRNA	Protein	Name
NM_001271681.2	NP_001258610.1	pyrroline-5-carboxylate reductase 2 isoform 2
NM_013328.4	NP_037460.2	pyrroline-5-carboxylate reductase 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24930674	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to oxidative stress	IMP IMP: Inferred from mutant phenotype	25865492	GOA
involved in proline biosynthetic process	IDA IDA: Inferred from direct assay	23024808	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	23024808	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PYCR2 Protein Structure

F420_oxidored

P5CR_dimer

0
100
200
300
320 a.a.

Protein Preferred Names	Protein Names
pyrroline-5-carboxylate reductase 2	P5C reductase 2

Related Diseases

Diseases	Alias
Leukodystrophy, Hypomyelinating, 10	Hypomyelinating Leukodystrophy 10 HLD10 Pycr2-Related Microcephaly-Progressive Leukoencephalopathy Leukodystrophy, Hypomyelinating, Type 10
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Leukodystrophy	Leukodystrophies
Leukodystrophy, Hypomyelinating, 13	Hypomyelinating Leukodystrophy 13 HLD13 C11orf73-Related Autosomal Recessive Hypomyelinating Leukodystrophy C11orf73-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy Hypomyelinating Leukodystrophy Due To Hikeshi Deficiency
Spastic Ataxia 8
Leukodystrophy, Hypomyelinating, 12	Hypomyelinating Leukodystrophy 12 HLD12 Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy Vps11-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy
Autosomal Recessive Cutis Laxa Type Iii	De Barsy Syndrome Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome Progeroid Syndrome, De Barsy Type Corneal Clouding, Cutis Laxa And Intellectual Disability Cutis Laxa Growth Deficiency Syndrome Progeroid Syndrome Of De Barsy
Cutis Laxa, Autosomal Recessive, Type Iib	ARCL2B Cutis Laxa With Progeroid Features Autosomal Recessive Cutis Laxa Type 2b Autosomal Recessive Cutis Laxa Type Iib Arcl2, Progeroid Type Cutis Laxa, Autosomal Recessive Type 2b Autosomal Recessive Cutis Laxa Type 2, Progeroid Type Cutis Laxa, Autosomal Recessive, 2b Cl Type Iib Cutis Laxa Autosomal Recessive Type Iib Cutis Laxa, Autosomal Recessive, Type 2b
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Leukodystrophy, Hypomyelinating, 4	Mitochondrial Hsp60 Chaperonopathy Hypomyelinating Leukodystrophy 4 HLD4 Mitchap60 Disease Pelizaeus-Merzbacher-Like Disease Due To Hspd1 Mutation Mitchap-60 Disease Leukodystrophy, Hypomyelinating, Type 4
Leukodystrophy, Hypomyelinating, 6	Habc Hypomyelinating Leukodystrophy 6 HLD6 H-Abc Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum HLD Leukodystrophy, Hypomyelinating, Type 6
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Autosomal Recessive Cutis Laxa Type Ii Classic Type	Arcl2, Classic Type Arcl2, Debre Type Autosomal Recessive Cutis Laxa Type 2, Classic Type Autosomal Recessive Cutis Laxa Type 2, Debre Type
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS11487	PYCR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PYCR2	MGD	MGI:1277956
Rattus norvegicus	PYCR2	RGD	RGD:1310074