AIFM1

apoptosis inducing factor mitochondria associated 1

Ensembl:: ENSG00000156709
UniProt:: O95831
OMIM:: 300169
Synonyms:: AIF, AUNX1, CMTX4, DFNX5, NAMSD

Cilia effects upon perturbation of AIFM1

Ciliogenesis screen results (3 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.40) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=672, lfc=0.70) PMID:30270045

Phenotypes

Human ciliopathy phenotype:: X-linked hereditary sensory and autonomic neuropathy with hearing loss

Ciliopathy associations

Spondylometaphyseal Dysplasia

Subcellular localization

connecting piece, flagella, mitochondria

Functional category

Motile cilium & axoneme

Function

Mutations in AIFM1 cause Spondylometaphyseal Dysplasia (PMID: 28842795; 33439541). AIFM1 has located in flagella.

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