1. Gene
  2. DNAL4 - dynein axonemal light chain 4 Gene

DNAL4 - dynein axonemal light chain 4 Gene

中文名称:动力蛋白轴丝轻链 4

种属: Homo sapiens

同用名: MRMV3; PIG27

基因 ID: 10126 | 基因类型: protein coding

关于 DNAL4

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:38,778,508-38,794,143 (from NCBI)

This gene has 4 transcripts (splice variants), 191 orthologues and is associated with 2 phenotypes. Broad expression in testis (RPKM 25.2), thyroid (RPKM 13.3) and 25 other tissues.

功能概要

该基因编码一个轴丝动力蛋白轻链,它作为外部动力蛋白臂复合体的一个组成部分发挥作用。这种复合物充当分子马达,提供以 ATP 依赖性方式移动纤毛的力。编码的蛋白质在具有活动纤毛或鞭毛的组织中表达,并可能参与精子鞭毛的运动。[RefSeq 提供,2014 年 12 月]

This gene encodes an axonemal dynein LIGHT chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. [provided by RefSeq, Dec 2014]

DNAL4 基因产物(1)

mRNA Protein Name
NM_005740.3 NP_005731.1 dynein axonemal light chain 4

DNAL4 蛋白结构

Dynein_light

Dynein_light: Dynein light chain type 1 (20 - 105)

  • 0
  • 105 a.a.
蛋白主名 其他名称

dynein axonemal light chain 4

dynein light chain, outer arm 4

关联疾病

疾病名称 别名
Mirror Movements 3

MRMV3

Mirror Movements, Type 3

Mirror Movements 1

Congenital Mirror Movement Disorder

Bimanual Synergia

Congenital Mirror Movements

Familial Congenital Controlateral Synkinesia

Familial Congenital Mirror Movements

Hereditary Congenital Controlateral Synkinesia

Hereditary Congenital Mirror Movements

Isolated Congenital Controlateral Synkinesia

Isolated Congenital Mirror Movements

Mirror Movements

MRMV1

Mirror Movements 1 And/Or Agenesis Of The Corpus Callosum

Mirror Movements, Congenital

Bimanual Synkinesis

Cmm

Mirror Movements, Type 1

Expressive Language Disorder

Developmental Expressive Language Disorder

Necrotizing Ulcerative Gingivitis

Acute Necrotizing Ulcerative Gingivitis

Anug

Vincent Angina

Vincent'S Disease

Acute Necrotising Ulcerative Gingivitis

Acute Necrotising Ulcerative Gingivostomatitis

Acute Necrotizing Ulcerative Gingivostomatitis

Acute Ulceromembranous Gingivitis

Angina - Vincents

Early Acute Necrotising Gingivitis

Trench Mouth

Vincent'S Angina

Vincent'S Angina - Pharyngitis

Vincent'S Infection, Any Site

Acute Membranous Gingivitis

Fusospirillary Gingivitis

Fusospirillosis

Phagedenic Gingivitis

Vincent'S Gingivitis

Vincent'S Infection

Vincent'S Stomatitis

Gingivitis, Necrotizing Ulcerative

Suppurative Otitis Media

Otitis Media With Effusion - Purulent

Purulent Otitis Media

Otitis Media, Suppurative

Klippel-Feil Syndrome

Cervical Vertebral Fusion

Congenital Dystrophia Brevicollis

Cervical Fusion Syndrome

Klippel-Feil Deformity

Autosomal Dominant Klippel-Feil Syndrome

Congenital Synostosis Of Cervical Vertebrae

Klippel-Feil And Turner Syndrome

Klippel-Feil Deformity, Deafness And Facial Asymmetry

Klippel Feil Syndrome

Cervical Vertebral Fusion Syndrome

Dystrophia Brevicollis Congenita

Fusion Of Cervical Vertebrae

Kfs

Klippel-Feil Sequence

Vertebral Cervical Fusion Syndrome

Klippel-Feil Syndrome, Autosomal Dominant

Klippel-Feil Malformation

Isolated Klippel-Feil Syndrome

Dandy-Walker Syndrome

Dandy-Walker Malformation

DWS

Atresia Of Foramina Of Magendie And Luschka

Dandy-Walker Complex

Dandy-Walker Cyst

Dandy-Walker Deformity

Dandy Walker Cyst

Dw Complex

Dandy-Walker Syndrome Or Malformation

Dandy-Walker Variant

Mega Cisterna Magna

Dwm

Hydrocephalus, Internal, Dandy-Walker Type

Hydrocephalus, Noncommunicating, Dandy-Walker Type

Luschka-Magendie Foramina Atresia

Isolated Dandy-Walker Malformation

Mega-Cisterna Magna

Dandy Walker Variant

Atresia Of Foramen Of Luschka

Atresia Of Foramen Of Magendie

Congenital Blockage Of Foramen Magendie

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

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
Macaca mulatta DNAL4 VGNC VGNC:71945
Rattus norvegicus DNAL4 RGD RGD:1309099
Bos taurus DNAL4 VGNC VGNC:56196
Mus musculus DNAL4 MGD MGI:1859217
Felis catus DNAL4 VGNC VGNC:82472
Canis familiaris DNAL4 VGNC VGNC:40022