DNAH5

DNAH5
Identifiers
AliasesDNAH5, CILD3, DNAHC5, HL1, KTGNR, PCD, dynein axonemal heavy chain 5
External IDsOMIM: 603335; MGI: 107718; HomoloGene: 1048; GeneCards: DNAH5; OMA:DNAH5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

1767

110082

Ensembl

ENSG00000039139

ENSMUSG00000022262

UniProt

Q8TE73

Q8VHE6

RefSeq (mRNA)

NM_001369

NM_133365

RefSeq (protein)

NP_001360

NP_579943

Location (UCSC)Chr 5: 13.69 – 14.01 MbChr 15: 28.2 – 28.47 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Dynein axonemal heavy chain 5 is a protein that in humans is encoded by the DNAH5 gene.

DNAH5 is a protein-coding gene.1 It provides the instructions for synthesizing a protein that belongs to a microtubule-associated protein complex made of heavy, light and intermediate chains.2 DNAH5 is responsible for making the heavy chain 5, found within the outer dynein arms of cilia.1 It will function as a force generating protein by using ATP, producing the power stroke for cilia.3

During early development, the cilia found on the primitive node will beat in a directional pattern, sending signaling molecules to the left, this process will begin to establish the internal left-right asymmetry.3 Mutations in DNAH5 are linked to primary ciliary dyskinesia, an autosomal recessive disorder.4 This X-linked disorder is characterized by recurrent respiratory infections, infertility, and abnormal organ placement.1 Non-functional DNAH5 proteins have been identified in individuals with primary ciliary dyskinesia and randomized left-right asymmetry.4