2. Gene
  3. BBOX1 - gamma-butyrobetaine hydroxylase 1 Gene

BBOX1 - gamma-butyrobetaine hydroxylase 1 Gene

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

中文名称：γ-丁基甜菜碱羟化酶 1

种属: Homo sapiens

同用名: BBH; BBOX; G-BBH; gamma-BBH

基因 ID: 8424 | 基因类型: protein coding

关于 BBOX1

Cytogenetic location: 11p14.2 Genomic coordinates (GRCh38): 11:27,040,815-27,127,809 (from NCBI)

This gene has 8 transcripts (splice variants), 209 orthologues and 1 paralogue. Biased expression in kidney (RPKM 100.1), liver (RPKM 20.3) and 3 other tissues.

功能概要

该基因编码γ-丁基甜菜碱羟化酶，该酶催化γ-丁基甜菜碱形成 L-肉碱，这是 L-肉碱生物合成途径的最后一步。肉碱对于在线粒体 β 氧化过程中活化脂肪酸跨线粒体膜的转运至关重要。[RefSeq 提供，2008 年 7 月]

This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008]

BBOX1 基因产物(5)

mRNA Protein Name
NM_001376258.1 NP_001363187.1 gamma-butyrobetaine dioxygenase
NM_001376259.1 NP_001363188.1 gamma-butyrobetaine dioxygenase
NM_001376260.1 NP_001363189.1 gamma-butyrobetaine dioxygenase
NM_001376261.1 NP_001363190.1 gamma-butyrobetaine dioxygenase
NM_003986.3 NP_003977.1 gamma-butyrobetaine dioxygenase

BBOX1 蛋白结构

DUF971

DUF971: Protein of unknown function (DUF971) (15 - 60)

TauD

TauD: Taurine catabolism dioxygenase TauD, TfdA family (126 - 366)

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

gamma-butyrobetaine dioxygenase

butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1

重组 BBOX1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76163 BBOX1 Protein, Human (sf9, His-GST) O75936 (M1-N387) ≥95%

关联疾病

疾病名称 别名
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h

Lgmd2h

Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency

Muscular Dystrophy Hutterite Type

Sarcotubular Myopathy

Limb-Girdle Muscular Dystrophy Type 2h
Erysipeloid

Infection Due To Erysipelothrix Rhusiopathiae

Erysipelothrix Infection
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
Advanced Sleep Phase Syndrome, Familial, 1

Advanced Sleep Phase Syndrome 1

FASPS1

Familial Advanced Sleep Phase Syndrome 1

Sleep Phase Syndrome, Advanced, Familial, Type 1
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne

Papa Syndrome

Fra

Familial Recurrent Arthritis

Pyogenic Arthritis, Pyoderma Gangrenosum And Acne

PAPAS

Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome

Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne
Bardet-Biedl Syndrome 11

BBS11

Bardet-Biedl Syndrome

Bbs

Bardet-Biedl Syndrome, Type 11
Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
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

Approval
生物活性分子 (2)
目录号 产品名 作用方式
纯度 是否罕见病
HY-B1836 Meldonium Activator ≥98.0% 否
HY-B1836A Meldonium dihydrate Activator ≥99.0% 否
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-RS01383 BBOX1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus BBOX1 VGNC VGNC:26432
Canis familiaris BBOX1 VGNC VGNC:38393
Felis catus BBOX1 VGNC VGNC:69156
Macaca mulatta BBOX1 VGNC VGNC:70233
Rattus norvegicus BBOX1 RGD RGD:619756
Mus musculus BBOX1 MGD MGI:1891372
Others BBOX1 NCBI
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