2. Gene
  3. MANBA - mannosidase beta Gene

MANBA - mannosidase beta Gene

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

中文名称：甘露糖苷酶β

种属: Homo sapiens

同用名: MANB1

基因 ID: 4126 | 基因类型: protein coding

关于 MANBA

Cytogenetic location: 4q24 Genomic coordinates (GRCh38): 4:102,630,770-102,760,968 (from NCBI)

This gene has 17 transcripts (splice variants), 198 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 8.4), thyroid (RPKM 6.6) and 25 other tissues.

功能概要

该基因编码糖基水解酶 2 家族的一个成员。编码的蛋白质定位于溶酶体，在那里它是 N-连接糖蛋白寡糖分解代谢途径中的最终外切糖苷酶。该基因的突变与 β-甘露糖苷贮积症有关，这是一种溶酶体贮积病，涉及广泛的神经系统疾病。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]

MANBA 基因产物(1)

mRNA Protein Name
NM_005908.4 NP_005899.3 beta-mannosidase precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables beta-mannosidase activity IDA
IDA: 通过直接分析推断
30552791 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

MANBA 蛋白结构

Glyco_hydro_2_N

Glyco_hydro_2_N: Glycosyl hydrolases family 2, sugar binding domain (78 - 208)

Glyco_hydro_2_C

Glyco_hydro_2_C: Glycosyl hydrolases family 2, TIM barrel domain (396 - 461)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 879 a.a.
蛋白主名 其他名称

beta-mannosidase

beta-mannosidase A

关联疾病

疾病名称 别名
Mannosidosis, Beta A, Lysosomal

Beta-Mannosidosis

Lysosomal Beta-Mannosidase Deficiency

Beta-Mannosidase Deficiency

Beta-D-Mannosidosis

Mannosidosis, Beta

MANSB

Lysosomal Beta A Mannosidosis
Angiokeratoma

Angiokeratoma Of Skin

Cutaneous Angiokeratoma

Skin Angiokeratoma
Lysosomal Storage Disease

Lysosomal Storage Diseases

Disorder Of Lysosomal Enzyme

Inborn Lysosomal Enzyme Disorder

Lysosomal Storage Metabolism Disorder

Lysosomal Storage Disorder
Mannosidosis, Alpha B, Lysosomal

Alpha-Mannosidosis

Lysosomal Alpha-D-Mannosidase Deficiency

Deficiency Of Alpha-Mannosidase

Alpha-Mannosidase B Deficiency

Mannosidosis

MANSA

Mannosidosis, Alpha-, Types I And Ii

Alpha-D-Mannosidosis

Alpha-Mannosidase Deficiency

Α-Mannosidosis

Alpha Mannosidase B Deficiency

Mannosidosis, Alpha B Lysosomal

Lysosomal Alpha B Mannosidosis

Alpha-Mannosidosis, Infantile Form

Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form

Alpha-Mannosidosis, Adult Form

Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form

Alpha-Mannosidosis Types I And Ii

Mannosidase Deficiency Diseases
Nystagmus 7, Congenital, Autosomal Dominant

NYS7

Congenital Nystagmus 7

Autosomal Dominant Congenital Nystagmus 7
Skin Hemangioma

Angioma Of The Skin

Angiomatous Naevus Of Skin

Hemangioma Of Skin
Nystagmus 6, Congenital, X-Linked

NYS6

Congenital Nystagmus 6

X-Linked Congenital Nystagmus 6

Nystagmus Congenital X-Linked 6

Nystagmus, Type 6, Congenital, X-Linked
Cardiomyopathy, Familial Hypertrophic, 3

Hypertrophic Cardiomyopathy 3

CMH3

Cardiomyopathy, Hypertrophic, 3

Cardiomyopathy Familial Hypertrophic 3

Cardiomyopathy, Familial Hypertrophic 3

Cardiomyopathy, Hypertrophic, Familial, Type 3
Fucosidosis

Alpha-L-Fucosidase Deficiency

Fucosidase Deficiency Disease

A-Fucosidase Deficiency

Alpha Fucosidase Deficiency

Lysosomal Storage Disease Caused By Defective Alpha-L-Fucosidase With Accumulation Of Fucose In The Tissues

Alpha-Fucosidase Deficiency

Fucosidase Deficiency

FUCA1D
Galactosialidosis

Goldberg Syndrome

Neuraminidase Deficiency With Beta-Galactosidase Deficiency

Ppca Deficiency

GSL

Lysosomal Protective Protein Deficiency

Cathepsin A Deficiency

Neuraminidase/Beta-Galactosidase Expression

Protective Protein/Cathepsin A Deficiency

Ngbe

Cathepsin A Deficiency Of

Lysosomal Protective Protein Deficiency Of

Deficiency Of Cathepsin A

Neuraminidase Beta-Galactosidase Deficiency

Protective Protein Cathepsin A Deficiency
Mucopolysaccharidosis, Type Vii

Sly Syndrome

Beta-Glucuronidase Deficiency

Mucopolysaccharidosis Vii

Mucopolysaccharidosis Type Vii

MPS7

Mps Vii

Gusb Deficiency

Mucopolysaccharidosis Type 7

Mucopolysaccharidosis 7

Deficiency Of Beta-Glucuronidase

Mps Vii - Sly Syndrome

Mps 7

Mpsvii

Sly Disease

Sl
Aspartylglucosaminuria

Aspartylglycosaminuria

Glycosylasparaginase Deficiency

Aspartylglucosaminidase Deficiency

Aga Deficiency

AGU

Aspartylglucosamidase Deficiency

Glycoasparaginase

Aspartylglucosamidase Deficiency

Hyperammonemia, Type Iii
Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

Alcohol Dependence, Protection Against

Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

Alcoholism, Susceptibility To

Alcoholic Intoxication, Chronic

Pharyngeal Neoplasms

Chronic Alcoholism

Dipsomania

Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos

Alcoholic
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-P0020A Tos-Gly-Pro-Arg-ANBA-IPA acetate 99.20% 否
HY-RS08013 MANBA 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 MANBA MGD MGI:88175
Bos taurus MANBA VGNC VGNC:31167
Macaca mulatta MANBA VGNC VGNC:74486
Felis catus MANBA VGNC VGNC:68148
Rattus norvegicus MANBA RGD RGD:1305785
Canis familiaris MANBA VGNC VGNC:42948
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