1. Gene
  2. VMA21 - vacuolar ATPase assembly factor VMA21 Gene

VMA21 - vacuolar ATPase assembly factor VMA21 Gene

中文名称:液泡 ATP 酶组装因子 VMA21

种属: Homo sapiens

同用名: MEAX; XMEA

基因 ID: 203547 | 基因类型: protein coding

关于 VMA21

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:151,396,595-151,409,364 (from NCBI)

This gene has 3 transcripts (splice variants), 211 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 10.4), thyroid (RPKM 7.4) and 25 other tissues.

功能概要

该基因编码用于组装溶酶体液泡 ATP 酶的伴侣。[RefSeq 提供,2012 年 7 月]

This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012]

VMA21 基因产物(2)

mRNA Protein Name
NM_001017980.4 NP_001017980.1 vacuolar ATPase assembly integral membrane protein VMA21 isoform 1
NM_001363810.1 NP_001350739.1 vacuolar ATPase assembly integral membrane protein VMA21 isoform 2

VMA21 蛋白结构

VMA21

VMA21: VMA21-like domain (24 - 88)

  • 0
  • 101 a.a.
蛋白主名 其他名称

vacuolar ATPase assembly integral membrane protein VMA21

VMA21 vacuolar H+-ATPase homolog

关联疾病

疾病名称 别名
Myopathy, X-Linked, With Excessive Autophagy

X-Linked Myopathy With Excessive Autophagy

Xmea

MEAX

Vacuolar Myopathy

Danon Disease

Pseudoglycogenosis Ii

Antopol Disease

Glycogen Storage Disease Iib

Glycogen Storage Disease Type 2b

Glycogen Storage Disease Type Iib

Gsd2b

Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency

Vacuolar Cardiomyopathy And Myopathy X-Linked

Vacuolar Cardiomyopathy And Myopathy, X-Linked

Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly

Gsd2b, Formerly

Gsd Iib, Formerly

Glycogen Storage Cardiomyopathy

Glycogen Storage Disease Limited To The Heart

Pseudoglycogenosis 2

X-Linked Vacuolar Cardiomyopathy And Myopathy

Lysosomal Glycogen Storage Disease With Normal Acid Maltase

Glycogen Storage Disease Due To Lamp-2 Deficiency

Gsd Due To Lamp-2 Deficiency

Glycogenosis Due To Lamp-2 Deficiency

Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity

DAND

Gsd-Iib

Myopathy

Muscular Diseases

Myopathies

Vici Syndrome

Absent Corpus Callosum Cataract Immunodeficiency

VICIS

Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation, And Absent Corpus Callosum

Dionisi Vici Sabetta Gambarara Syndrome

Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation And Absent Corpus Callosum

Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome

Dionisi-Vici-Sabetta-Gambarara Syndrome

Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum

Alcohol-Related Neurodevelopmental Disorder

Static Encephalopathy

Arnd

Encephalopathy, Static

Alcohol Related Neurodevelopmental Disorder

Hypophosphatasia, Infantile

Infantile Hypophosphatasia

HPPI

Hops

Phosphoethanolaminuria

Perinatal Lethal Hypophosphatasia

Perinatal Lethal Rathbun Disease

Perinatal Lethal Phosphoethanolaminuria

Infantile Rathbun Disease

Infantile Phosphoethanolaminuria

Hypophosphatasia, Perinatal Lethal

Neurodegeneration With Brain Iron Accumulation 5

NBIA5

Beta-Propeller Protein-Associated Neurodegeneration

Bpan

Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood

Senda

Neurodegeneration With Brain Iron Accumulation Type 5

Neurodegeneration With Brain Iron Accululation 5

Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood

Neurodegeneration, With Brain Iron Accululation, Type 5

Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy

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

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus VMA21 RGD RGD:1566155
Canis familiaris VMA21 VGNC VGNC:48270
Mus musculus VMA21 MGD MGI:1914298
Bos taurus VMA21 VGNC VGNC:36804