DNAH12

dynein axonemal heavy chain 12

Ensembl:: ENSG00000174844
UniProt:: Q6ZR08
OMIM:: 603340
Synonyms:: DHC3, DLP12, DNAH12L, DNAH7L, DNAHC3

Cilia effects upon perturbation of DNAH12

Ciliogenesis screen results (1 screen)

Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Subcellular localization

endosome, flagella

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
Metabolism

Function

D H12 plays a crucial role in the proper organization of axoneme in flagella, but not cilia, by recruiting D H1 and D LI1 in both humans and mice (40146200).

Model organism evidence

Mus musculus (1 reference)

Transmission electron microscopy (TEM) revealed pronounced axonemal abnormalities, including inner dynein arms (IDAs) impairment and central pair (CP) loss in sperm flagella of the patients.

PMIDs: 40146200

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