PYCR2 - pyrroline-5-carboxylate reductase 2 Gene

Homo sapiens

Also known as HLD10; P5CR2

Gene ID: 29920 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24930674	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11487	PYCR2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

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

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