QuickView for Timm16 (gene)

Gene Symbol:

PAM16 Homo sapiens

Full name:

presequence translocase associated motor 16

Synonyms:

CGI-136, MAGMAS, SMDMDM, TIM16, TIMM16, mitochondrial import inner membrane translocase subunit TIM16, magmas-like protein, mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction, mitochondria-associated granulocyte macrophage CSF-signaling molecule, presequence translocase associated motor 16 homolog

Genomic Location:

Chr 16: 4330253-4341301

Description:

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-Dagh...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

PPARG_01 ,  COUP_01 ,  TGACCTY_ERR1_Q2 ,  HNF4_DR1_Q3 ,  HNF4_01 ,  DR1_Q3 ,  COUP_DR1_Q6 ,  RCGCANGCGY_NRF1_Q6 ,  PPAR_DR1_Q2

Cytogenetic Map:

16p13.3

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