PEX12 - peroxisomal biogenesis factor 12 Gene

中文名称：过氧化物酶体生物发生因子 12

种属: Homo sapiens

同用名: PAF-3; PBD3A

基因 ID: 5193 | 基因类型: protein coding

关于 PEX12

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:35,574,795-35,578,571 (from NCBI)

This gene has 3 transcripts (splice variants), 196 orthologues and is associated with 7 phenotypes. Ubiquitous expression in brain (RPKM 5.6), testis (RPKM 5.4) and 25 other tissues.

功能概要

该基因属于 peroxin-12 家族。过氧化物酶 (PEX) 是组装功能性过氧化物酶体所必需的蛋白质。过氧化物酶体生物发生障碍 (PBD) 是一组以过氧化物酶体功能的多重缺陷为特征的遗传异质常染色体隐性致死性疾病。过氧化物酶体生物发生障碍是一个异质组，至少有 14 个互补组，并且在属于特定互补组的病例中观察到超过 1 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。该基因的缺陷是 Zellweger 综合征 (ZWS) 的一个原因。[RefSeq 提供，2008 年 10 月]

This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 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 are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

PEX12 基因产物(1)

mRNA	Protein	Name
NM_000286.3	NP_000277.1	peroxisome assembly protein 12

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	10562279	GOA
enables ubiquitin ligase activator activity	IDA IDA: 通过直接分析推断	24662292	GOA
NOT enables ubiquitin protein ligase activity	IDA IDA: 通过直接分析推断	24662292	GOA
enables zinc ion binding	IMP IMP: 通过突变表型推断	10562279	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to reactive oxygen species	IDA IDA: 通过直接分析推断	26344566	GOA
involved in peroxisome organization	IDA IDA: 通过直接分析推断	9354782	GOA
involved in peroxisome organization	IMP IMP: 通过突变表型推断	17534573	GOA
involved in protein import into peroxisome matrix	IMP IMP: 通过突变表型推断	9090384	GOA
involved in protein import into peroxisome matrix, receptor recycling	IDA IDA: 通过直接分析推断	24662292	GOA
involved in protein polyubiquitination	IDA IDA: 通过直接分析推断	24662292	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
is active in peroxisomal membrane	IDA IDA: 通过直接分析推断	9922452	GOA
located in peroxisomal membrane	IDA IDA: 通过直接分析推断	9090384	GOA
located in peroxisome	IDA IDA: 通过直接分析推断	9922452	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

PEX12 蛋白结构

Pex2_Pex12

0
100
200
300
359 a.a.

蛋白主名

其他名称

peroxisome assembly protein 12

peroxin 12

PEX12 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	PEX12	O00623	TTPA	Homo sapiens	P49638	Validated Y2H	32296183
种属内	PEX12	O00623	COL8A2	Homo sapiens	Q4VAQ0	Validated Y2H	32296183
种属内	PEX12	O00623	NRM	Homo sapiens	Q8IXM6	Validated Y2H	32296183
种属内	PEX12	O00623	MARCHF2	Homo sapiens	Q9P0N8	Validated Y2H	32296183
种属内	PEX12	O00623	ADIPOQ	Homo sapiens	Q15848	Validated Y2H	32296183
种属内	PEX12	O00623	ERMP1	Homo sapiens	Q7Z2K6	Validated Y2H	32296183
种属内	PEX12	O00623	FA2H	Homo sapiens	Q7L5A8	Validated Y2H	32296183
种属内	PEX12	O00623	C5orf46	Homo sapiens	Q6UWT4	Validated Y2H	32296183
种属内	PEX12	O00623	CLDN10	Homo sapiens	P78369	Validated Y2H	32296183
种属内	PEX12	O00623	TREX1	Homo sapiens	Q9NSU2-1	Validated Y2H	32296183
种属内	PEX12	O00623	CYBC1	Homo sapiens	Q9BQA9	Validated Y2H	32296183
种属内	PEX12	O00623	ACSL5	Homo sapiens	Q9ULC5	Validated Y2H	32296183
种属内	PEX12	O00623	RBFA	Homo sapiens	Q8N0V3	Validated Y2H	32296183
种属内	PEX12	O00623	TMEM222	Homo sapiens	Q9H0R3	Validated Y2H	32296183
种属内	PEX12	O00623	GJB2	Homo sapiens	P29033	Validated Y2H	32296183
种属内	PEX12	O00623	NKG7	Homo sapiens	Q16617	Validated Y2H	32296183
种属内	PEX12	O00623	SEC61G	Homo sapiens	P60059	Validated Y2H	32296183
种属内	PEX12	O00623	PEX19	Homo sapiens	P40855	Far-WB	10704444
种属内	PEX12	O00623	PEX5	Homo sapiens	P50542	Filter Binding	10562279
种属内	PEX12	O00623	PEX5	Homo sapiens	P50542	Y2H	10562279
种属内	PEX12	O00623	PEX5	Homo sapiens	P50542	Y2H	12096124
种属内	PEX12	O00623	FXYD6	Homo sapiens	Q9H0Q3	Validated Y2H	32296183
种属内	PEX12	O00623	TMEM11	Homo sapiens	P17152	Validated Y2H	32296183
种属内	PEX12	O00623	FKBP8	Homo sapiens	Q14318	Validated Y2H	32296183
种属内	PEX12	O00623	IER3IP1	Homo sapiens	Q9Y5U9	Validated Y2H	32296183
种属内	PEX12	O00623	STX8	Homo sapiens	Q9UNK0	Validated Y2H	32296183
种属内	PEX12	O00623	PTPN9	Homo sapiens	P43378	Validated Y2H	32296183
种属内	PEX12	O00623	SRGN	Homo sapiens	P10124	Validated Y2H	32296183
种属内	PEX12	O00623	BNIP2	Homo sapiens	Q12982	Validated Y2H	32296183
种属内	PEX12	O00623	DNAJC30	Homo sapiens	Q96LL9	Validated Y2H	32296183
种属内	PEX12	O00623	SMCO4	Homo sapiens	Q9NRQ5	Validated Y2H	32296183
种属内	PEX12	O00623	BTN2A2	Homo sapiens	Q8WVV5	Validated Y2H	32296183
种属内	PEX12	O00623	SEC22A	Homo sapiens	Q96IW7	Validated Y2H	32296183
种属内	PEX12	O00623	PNLIPRP1	Homo sapiens	P54315	Validated Y2H	32296183

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

Peroxisome Biogenesis Disorder 3b

PBD3B	Peroxisome Biogenesis Disorder Type 3b
Peroxisome Biogenesis Disorder, Type 3b

Peroxisome Biogenesis Disorder 3a

PBD3A	Peroxisome Biogenesis Disorder Complementation Group 3
PBD-CG3	Cg3
Peroxisome Biogenesis Disorder, Type 3a

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

Zellweger Spectrum Disorder

Zsd	Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
Zellweger Spectrum	Cerebrohepatorenal Syndrome
Pbd, Zss	Pbd-Zsd
Zellweger Syndrome Spectrum	Zellweger Syndrome

Zellweger Syndrome

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

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

Rhizomelic Chondrodysplasia Punctata

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

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

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

Linear Skin Defects With Multiple Congenital Anomalies 1

Midas Syndrome	Mcops7
Mls Syndrome	Microphthalmia, Syndromic 7
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia With Linear Skin Defects
Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome	Syndromic Microphthalmia Type 7
LSDMCA1	Mls
Microphthalmia, Dermal Aplasia, And Sclerocornea	Microphthalmia With Linear Skin Defect Syndrome
Syndromic Microphthalmia 7	Linear Skin Defects With Multiple Congenital Anomalies
Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome	Microphthalmia Dermal Aplasia And Sclerocornea Syndrome
Micropthalmia Syndromic 7	Microphthalmia Syndromic 7
Microphthalmia With Linear Skin Lesions Syndrome	Syndromic Microphthalmia-7
Microphthalmia, Dermal Aplasia And Sclerocornea	Microphthalmia, Syndromic, 7
Midas

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

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

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

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

Albinism, Ocular, With Late-Onset Sensorineural Deafness

Ocular Albinism With Sensorineural Deafness	OASD
Deafness And Ocular Albinism	Ocular Albinism With Late-Onset Sensorineural Deafness
Albinism, Ocular, With Sensorineural Deafness	Autosomal Recessive Waardenburg Syndrome Type 2 With Ocular Albinism
Digenic Waardenburg Syndrome/Albinism	Digenic Waardenburg Syndrome/Ocular Albinism
Ws2-Oa	Albinism Ocular Late Onset Sensorineural Deafness
Ocular Albinism With Late-Onset Sensorineural Hearing Loss	Waardenburg Syndrome/Ocular Albinism, Digenic
Waardenburg Syndrome/Albinism, Digenic	Ocular Albinism And Sensorineural Deafness

Skin Creases, Congenital Symmetric Circumferential, 1

Michelin Tire Baby Syndrome	CSCSC1
Skin Creases, Multiple Benign Ring-Shaped, Of Limbs	Circumferential Skin Creases, Kunze Type
Congenital Symmetric Circumferential Skin Creases 1	Circumferential Skin Creases Kunze Type
Symmetric Circumferential Skin Creases, Congenital, 1	Csc-Kt
Multiple Benign Ring-Shaped Skin Creases Of Limbs	Michelin-Tire Baby

Skin Creases, Congenital Symmetric Circumferential, 2

CSCSC2	Symmetric Circumferential Skin Creases, Congenital, 2
Congenital Symmetric Circumferential Skin Creases 2

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Cornelia De Lange Syndrome 1

De Lange Syndrome	CDLS1
Cdl	Cdls
Typus Degenerativus Amstelodamensis	Brachmann-De Lange Syndrome
Bdls	Amstelodamensis Typus Degenerativus
Cornelia De Lange Syndrome, Type 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-RS10343	PEX12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	PEX12	MGD	MGI:2144177
Bos taurus	PEX12	VGNC	VGNC:32754
Rattus norvegicus	PEX12	RGD	RGD:620757
Canis familiaris	PEX12	VGNC	VGNC:44429
Macaca mulatta	PEX12	VGNC	VGNC:75948
Felis catus	PEX12	VGNC	VGNC:68794

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