PAM16

presequence translocase associated motor 16

Ensembl:
ENSG00000282228
UniProt:
Q9Y3D7
OMIM:
614336
Synonyms:
MAGMAS, TIM16, TIMM16

Cilia effects upon perturbation of PAM16

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.78) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=312, lfc=0.05) PMID:30270045

Phenotypes

Mouse phenotype:
embryonic lethality prior to organogenesis, pretal lethality prior to heart atrial septation, preweaning lethality, complete penetrance

Ciliopathy associations

  • Spondylometaphyseal Dysplasia

Subcellular localization

cilia associated gene, mitochondria

Functional category

  • Ciliary assembly/disassembly
  • Metabolism

Function

Mutations in the PAM16 gene cause Spondylometaphyseal Dysplasia (PMID: 24786642).