2. Gene
  3. PYCR2 - pyrroline-5-carboxylate reductase 2 Gene

PYCR2 - pyrroline-5-carboxylate reductase 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：吡咯啉-5-羧酸还原酶 2

种属: Homo sapiens

同用名: HLD10; P5CR2

基因 ID: 29920 | 基因类型: protein coding

关于 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.

功能概要

该基因属于吡咯啉-5-羧酸还原酶家族。编码的线粒体蛋白催化吡咯啉-5-羧酸盐转化为脯氨酸，这是脯氨酸生物合成的最后一步。已经描述了该基因的可变剪接转录物变体。[RefSeq 提供，2012 年 11 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
24930674 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to oxidative stress IMP
IMP: 通过突变表型推断
25865492 GOA
involved in proline biosynthetic process IDA
IDA: 通过直接分析推断
23024808 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
23024808 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PYCR2 蛋白结构

F420_oxidored

F420_oxidored: NADP oxidoreductase coenzyme F420-dependent (3 - 98)

P5CR_dimer

P5CR_dimer: Pyrroline-5-carboxylate reductase dimerisation (162 - 268)

  • 0
  • 100
  • 200
  • 300
  • 320 a.a.
蛋白主名 其他名称

pyrroline-5-carboxylate reductase 2

P5C reductase 2

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11487 PYCR2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus PYCR2 MGD MGI:1277956
Rattus norvegicus PYCR2 RGD RGD:1310074
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