about
P688
Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate geneMutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetryMislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesiaAxonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesiaCongenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesiaExome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesiaARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetryDNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein armHigh prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermiaDNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory ComplexDNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm ComplexesZMYND10 functions in a chaperone relay during axonemal dynein assembly.Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia
P921
Q24290475-CDF95C68-8934-4135-92B3-3E6AF623F411Q24292162-62552AA2-BF63-44E9-B022-6D93D06589B5Q24297464-35E21223-0B0A-4D2E-A580-7B319DC51874Q24305357-E1BA2A1E-CD6A-4410-9E16-A0F0C25CC0B2Q24306479-24DF1AEC-01A9-4514-B9B7-FF47BD73AF2CQ24306705-B90A48CB-17B9-45DA-BD19-DAA6EA918A8BQ24307830-8003932C-80A1-411F-A8F9-2AD09D8532EBQ24308710-A6F2A9EC-84B6-4BB1-9F7C-CC953AC76108Q24313134-5F24DCBB-61C6-4B62-A73C-3683528B11AAQ24314576-C072A2E8-0EA2-46B5-9DB0-171CFEDE752FQ24318839-C483A3C8-00E1-49A5-835A-F7E7E1A0A060Q24339447-6E754B7B-6069-4E56-97D4-46707CDE7962Q28116796-19384D27-7924-4B44-B7EE-EBD84F0EA497Q30797341-2C38D221-FF32-4FF4-846F-A5D95888FE6FQ55715968-D1E3A3DD-1493-4A83-8C7B-DD6D1F93C5A4Q92614174-83B892C2-246C-4A01-BDA7-F82A0D0371EB
P921
description
humanes Protein
@de
mammalian protein found in Homo sapiens
@en
menselijk eiwit
@nl
protein
@id
proteinë
@sq
protèin
@ace
protéine humaine
@fr
بروتين بشري
@ar
name
Dynein axonemal heavy chain 5
@en
Dynein axonemal heavy chain 5
@nl
type
label
Dynein axonemal heavy chain 5
@en
Dynein axonemal heavy chain 5
@nl
altLabel
DNAH5
@en
axonemal beta dynein heavy chain 5
@en
ciliary dynein heavy chain 5
@en
dynein heavy chain 5, axonemal
@en
dynein, axonemal, heavy polypeptide 5
@en
prefLabel
Dynein axonemal heavy chain 5
@en
Dynein axonemal heavy chain 5
@nl
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ENSP00000265104