PEX7 - peroxisomal biogenesis factor 7 Gene

中文名称：过氧化物酶体生物发生因子 7

种属: Homo sapiens

同用名: RD; PBD9B; PTS2R; RCDP1

基因 ID: 5191 | 基因类型: protein coding

关于 PEX7

Cytogenetic location: 6q23.3 Genomic coordinates (GRCh38): 6:136,822,592-136,913,934 (from NCBI)

This gene has 7 transcripts (splice variants), 201 orthologues, 9 paralogues and is associated with 7 phenotypes. Ubiquitous expression in kidney (RPKM 4.4), thyroid (RPKM 4.3) and 25 other tissues.

功能概要

该基因编码通过过氧化物酶体靶向信号 2 (PTS2) 靶向细胞器的一组过氧化物酶体基质酶的胞质受体。该基因的缺陷会导致过氧化物酶体生物发生障碍 (PBD) ，其特征是过氧化物酶体功能存在多重缺陷。 PBD 至少有 14 个互补组，在属于特定互补组的病例中观察到不止一种表型。尽管 PBD 患者的临床特征各不相同，但所有 PBD 患者的细胞都表现出将一种或多种过氧化物酶体基质蛋白导入细胞器的缺陷。该基因的缺陷与 PBD 互补组 11 (PBD-CG11) 疾病、1 型根状茎点状软骨发育不良 (RCDP1) 和 Refsum 病 (RD) 有关。[RefSeq 提供，2008 年 10 月]

This gene encodes the cytosolic receptor for the set of peroxisomal matrix Enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]

PEX7 基因产物(2)

mRNA	Protein	Name
NM_000288.4	NP_000279.1	peroxisomal biogenesis factor 7 isoform 1
NM_001410945.1	NP_001397874.1	peroxisomal biogenesis factor 7 isoform 2

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 enzyme binding	IPI IPI: 通过物理相互作用推断	11931631	GOA
enables peroxisome matrix targeting signal-2 binding	IDA IDA: 通过直接分析推断	9090381	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11546814	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	11931631	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in ether lipid biosynthetic process	IMP IMP: 通过突变表型推断	9090383	GOA
involved in peroxisome organization	IMP IMP: 通过突变表型推断	10022913	GOA
acts upstream of or within protein import into peroxisome matrix	IDA IDA: 通过直接分析推断	9090381	GOA
involved in protein import into peroxisome matrix	IDA IDA: 通过直接分析推断	11546814	GOA
involved in protein import into peroxisome matrix	IMP IMP: 通过突变表型推断	12522768	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
is active in cytosol	IDA IDA: 通过直接分析推断	25538232	GOA
located in cytosol	IDA IDA: 通过直接分析推断	11931631	GOA
is active in peroxisomal matrix	IDA IDA: 通过直接分析推断	11546814	GOA
located in peroxisomal matrix	IDA IDA: 通过直接分析推断	11931631	GOA
located in peroxisome	IDA IDA: 通过直接分析推断	9090382	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

PEX7 蛋白结构

WD40

0
100
200
300
323 a.a.

蛋白主名

其他名称

peroxisomal biogenesis factor 7

PTS2 receptor

PEX7 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	PEX7	O00628	PIAS1	Homo sapiens	O75925	Y2H Pooling	32814053
种属内	PEX7	O00628	PIAS1	Homo sapiens	O75925	Validated Y2H	32814053
种属内	PEX7	O00628	PIAS1	Homo sapiens	O75925	Y2H Array	32814053

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Rhizomelic Chondrodysplasia Punctata, Type 1

Rhizomelic Chondrodysplasia Punctata Type 1	RCDP1
Peroxisome Biogenesis Disorder 9	Pbd9
Chondrodysplasia Punctata, Rhizomelic Form	Cdpr
Chondrodystrophia Calcificans Punctata	Rhizomelic Chondrodysplasia Punctata 1
Chondrodysplasia Punctata, Rhizomelic, Type 1	Chondrodysplasia Punctata, Rhizomelic

Peroxisome Biogenesis Disorder 9b

PBD9B	Refsum Disease, Adult, 2
Peroxisome Biogenesis Disorder, Pex7-Related, Atypical	Atypical Peroxisome Biogenesis Disorder Pex7-Related
Refsum Disease Adult 2	Peroxisome Biogenesis Disorder Complementation Group 11
PBD-CG11	Cg11
Pbd-Cgr	Peroxisome Biogenesis Disorder Complementation Group R
Peroxisome Biogenesis Disorder, Type 9b	Peroxisome Biogenesis Disorder, Complementation Group 11

Refsum Disease, Classic

Refsum Disease	Heredopathia Atactica Polyneuritiformis
Phytanic Acid Oxidase Deficiency	Hmsn Iv
Refsum Disease, Adult, 1	Refsum'S Disease
Phytanic Acid Storage Disease	Hereditary Motor And Sensory Neuropathy Iv
Hmsn4	Hmsn Type Iv
Hmsn 4	Adult Refsum Disease
Classic Refsum Disease	Hereditary Motor And Sensory Neuropathy Type Iv
Refsum Syndrome	Hsmn Iv
Disorder Of Cornification 11	Doc 11
Hereditary Sensory And Motor Neuropathy Type 4	Hypertrophic Neuropathy Of Refsum
Ard	Crd
Hereditary Motor And Sensory Neuropathy Type 4	Phytanic-Coa Hydroxylase Deficiency
RD

Rhizomelic Chondrodysplasia Punctata

Chondrodysplasia Punctata, Rhizomelic	Rcdp
Chondrodysplasia Punctata, Rhizomelic Form	Rcp
Chondrodysplasia Punctata Rhizomelic

Connective Tissue Disease

Connective Tissue Diseases	Connective Tissue Disorder
Abnormality Of Connective Tissue	Disorder Of Connective Tissue
Connective Tissue Disorders

Rhizomelic Chondrodysplasia Punctata, Type 2

Rhizomelic Chondrodysplasia Punctata Type 2	Dihydroxyacetonephosphate Acyltransferase Deficiency
RCDP2	Dhapat Deficiency
Glyceronephosphate O-Acyltransferase Deficiency	Gnpat Deficiency
Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency	Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
Chondrodysplasia Punctata, Rhizomelic, Type 2	Rhizomelic Chondrodysplasia Punctata 2

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

Rhizomelic Chondrodysplasia Punctata, Type 5

Rhizomelic Chondrodysplasia Punctata Type 5	RCDP5
Rhizomelic Chondrodysplasia Punctata 5	Chondrodysplasia Punctata, Rhizomelic, Type 5

Mulibrey Nanism

MUL	Muscle-Liver-Brain-Eye Nanism
Pericardial Constriction And Growth Failure	Perheentupa Syndrome
Mulibrey Growth Disorder	Mulibrey Nanism Syndrome
Pericardial Constriction With Growth Failure	Nanism Mulibrey

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder	Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease	PBD1B
Refsum Disease, Infantile	Adrenoleukodystrophy, Autosomal Neonatal
Ird	Mild Pbd-Zsd
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder	Pbd-Zsd
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Neonatal Adrenoleukodystrophy	Refsum Disease Infantile
Peroxisome Biogenesis Disorders	Peroxisome Biogenesis Disorder, Type 1b

Chondrodysplasia Punctata Syndrome

Chondrodysplasia Punctata	Chondrodysplasia Punctata Congenita
Toriello Higgins Miller Syndrome	Chondrodysplasia Punctata, Toriello Type
Toriello-Higgins-Miller Syndrome	Cdp
Chondrodysplasia Punctata, X-Linked Dominant Type	Chondrodysplasia Punctata Group
Dysplasia Punctata Epiphysis	Dysplasia Punctata
Dysplasia Epiphysealis Punctata	Chondrodystrophy Of Punctata

Bardet-Biedl Syndrome 13

BBS13

Bardet-Biedl Syndrome, Type 13

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Adrenoleukodystrophy

X-Linked Adrenoleukodystrophy	ALD
Siemerling-Creutzfeldt Disease	X-Ald
X-Linked Cerebral Adrenoleukodystrophy	Bronze Schilder Disease
Melanodermic Leukodystrophy	Addison Disease And Cerebral Sclerosis
Adrenomyeloneuropathy, Adult	Diffuse Sclerosis
X-Cald	Adrenomyeloneuropathy
Encephalitis Periaxialis Concentrica	Encephalitis Periaxialis, Schilder'S
Sudanophilic Cerebral Sclerosis	Ald Childhood Cerebral Form
Adrenoleukodystrophy X-Linked Cerebral Form	Adrenoleukodystrophy Childhood Cerebral Form
Childhood Cerebral Ald	Schilder Disease
X-Linked Ald	Adrenoleukodystrophy, X-Linked
Amn	Diffuse Cerebral Sclerosis Of Schilder
Systemic Scleroderma	Balo'S Concentric Sclerosis
Ald - [Adrenoleukodystrophy]	Addison-Schilder

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
Disorders Of Peroxisome Biogenesis	Zellweger Spectrum
Zellweger Syndrome Spectrum	Peroxisomal Biogenesis Disorders
Pbd, Zss	Pbd-Zsd
Pbd-Zss	Pbd-Zellweger Spectrum Disorder
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum	Peroxisome Biogenesis Disorder
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorders
Zellweger Spectrum Disorder	Hyperpipecolic Acidaemia

Warburg Micro Syndrome 1

Warburg Micro Syndrome	Micro Syndrome
Warbm	WARBM1
Warburg Sjo Fledelius Syndrome	Warburg-Sjo-Fledelius Syndrome
Micro Syndrome 1	Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Neonatal Adrenoleukodystrophy

Nald	Adrenoleukodystrophy Autosomal Neonatal Form
Intermediate Pbd-Zsd	Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Adrenoleukodystrophy, Autosomal, Neonatal Form	Adrenoleukodystrophy Neonatal
Adrenoleukodystrophy, Neonatal

Alpha-Methylacyl-Coa Racemase Deficiency

Amacr Deficiency

AMACRD

Polyneuropathy

Polyneuropathies

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-169784	PPI-1040		/	否
HY-RS10354	PEX7 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	PEX7	VGNC	VGNC:75953
Bos taurus	PEX7	VGNC	VGNC:32764
Mus musculus	PEX7	MGD	MGI:1321392
Felis catus	PEX7	VGNC	VGNC:68799
Rattus norvegicus	PEX7	RGD	RGD:1308483
Canis familiaris	PEX7	VGNC	VGNC:44438

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站点地图隐私声明

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PEX7 - peroxisomal biogenesis factor 7 Gene

关于 PEX7

功能概要

PEX7 基因产物(2)

PEX7 蛋白结构

PEX7 蛋白互作信息

关联疾病

直系同源

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PEX7 - peroxisomal biogenesis factor 7 Gene

关于 PEX7

功能概要

PEX7 基因产物(2)

PEX7 蛋白结构

PEX7 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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