2. Gene
  3. IDH3B - isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta Gene

IDH3B - isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta Gene

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

中文名称：异柠檬酸脱氢酶 (NAD (+) ) 3 非催化亚基 β

种属: Homo sapiens

同用名: RP46

基因 ID: 3420 | 基因类型: protein coding

关于 IDH3B

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:2,658,395-2,664,216 (from NCBI)

This gene has 12 transcripts (splice variants), 209 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 34.2), kidney (RPKM 31.3) and 25 other tissues.

功能概要

异柠檬酸脱氢酶催化异柠檬酸氧化脱羧为 2-酮戊二酸。这些酶属于两个不同的亚类，其中一个使用 NAD (+) 作为电子受体，另一个使用 NADP (+) 。已报道了五种异柠檬酸脱氢酶：三种 NAD (+) 依赖性异柠檬酸脱氢酶，定位于线粒体基质，以及两种 NADP (+) 依赖性异柠檬酸脱氢酶，其中一种是线粒体，另一种主要是细胞溶质。 NAD (+) 依赖性异柠檬酸脱氢酶催化三羧酸循环的变构调节限速步骤。每一种同功酶都是由两个α亚基、一个β亚基和一个γ亚基组成的异四聚体。该基因编码的蛋白质是 NAD (+) 依赖性异柠檬酸脱氢酶的一种同工酶的 β 亚基。已针对该基因描述了编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供，2016 年 9 月]

Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These Enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2016]

IDH3B 基因产物(4)

mRNA Protein Name
NM_001258384.3 NP_001245313.1 isocitrate dehydrogenase [NAD] subunit beta, mitochondrial isoform d precursor
NM_001330763.2 NP_001317692.1 isocitrate dehydrogenase [NAD] subunit beta, mitochondrial isoform e precursor
NM_006899.5 NP_008830.2 isocitrate dehydrogenase [NAD] subunit beta, mitochondrial isoform a precursor
NM_174855.4 NP_777280.1 isocitrate dehydrogenase [NAD] subunit beta, mitochondrial isoform b precursor

IDH3B 蛋白结构

Iso_dh

Iso_dh: Isocitrate/isopropylmalate dehydrogenase (51 - 375)

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

isocitrate dehydrogenase [NAD] subunit beta, mitochondrial

NAD(+)-specific ICDH subunit beta

关联疾病

疾病名称 别名
Retinitis Pigmentosa 46

RP46

Retinitis Pigmentosa, Autosomal Recessive, Idh3b-Related

Retinitis Pigmentosa Autosomal Recessive Idh3b-Related

Retinitis Pigmentosa, Type 46
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
Juxtacortical Chondroma

Periosteal Chondroma
Fibroosseous Pseudotumor Of Digits

Fibroosseous Digital Pseudotumor

Fibroosseous Pseudotumor Of The Digits
D-2-Hydroxyglutaric Aciduria 1

D-2-Hydroxyglutaric Aciduria

D2HGA1

D-2-Hga

D-2-Hydroxyglutaric Acidemia

D2ha

D2hga

Aciduria, D-2-Hydroxyglutaric, Type 1

Combined D-2- And L-2-Hydroxyglutaric Aciduria
2-Hydroxyglutaric Aciduria

2-Hga

2-Hydroxyglutaric Acidemia

2-Hydroxyglutaricaciduria

Combined D-2- And L-2-Hydroxyglutaric Aciduria
Multiple Enchondromatosis, Maffucci Type

Maffucci Syndrome

Chondrodysplasia With Hemangioma

Chondroplasia Angiomatosis

Enchondromatosis With Hemangiomata

Hemangiomatosis Chondrodystrophica

Kast Syndrome

Multiple Angiomas And Endochondromas

Dyschondrodysplasia With Hemangiomas

Enchondromatosis Type Ii

Enchondromatosis With Multiple Cavernous Hemangiomas

Dyschondroplasia And Cavernous Hemangioma

Hemangiomata With Dyschondroplasia
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
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-RS06534 IDH3B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus IDH3B RGD RGD:621881
Felis catus IDH3B VGNC VGNC:80120
Mus musculus IDH3B MGD MGI:2158650
Macaca mulatta IDH3B VGNC VGNC:84532
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