PAM16

This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be important in reactive oxygen species (ROS) homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay and other skeletal abnormalities. [provided by RefSeq, May 2017]

Description

Presequence translocase associated motor 16

Tissue specificity

Tissue enhanced (skeletal muscle)

Subcell location

Nucleoplasm, Microtubules, Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

16 (4331549 - 4355607)

Ensembl ID

ENSG00000217930  (ver. 103.38)

Orthologs

-

UniProt

Q9Y3D7

neXtProt

NX_Q9Y3D7

Human splice variants

Protein structure