Presequence Translocase-Associated Motor 16, S. cerevesiae, Homolog of

Alternative Names

  • PAM16
  • Mitochondria-Associated Granulocyte-Macrophage Colony-Stimulating Factor Signaling Molecule
  • MAGMAS
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OMIM Number

614336

NCBI Gene ID

51025

Uniprot ID

Q9Y3D7

Length

24,059 bases

No. of Exons

1

No. of isoforms

1

Protein Name

Mitochondrial import inner membrane translocase subunit TIM16

Molecular Mass

13825 Da

Amino Acid Count

125

Genomic Location

chr16:4,331,549-4,355,607

Gene Map Locus
16p13.3

Description

The PAM16 gene codes for a protein, MAGMAS, that forms an essential component of the pre-sequence translocase-associated protein import motor or PAM. PAM, in turn, regulates pre-protein translocation into the mitochondrial matrix. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_016069.10:c.226A>GLebanonChr16:4340985PathogenicPathogenicSpondylometaphyseal Dysplasia, Megarbane-Dagher-Melki TypeNG_054893.1:g.15388A>G; NM_016069.10:c.226A>G; NP_057153.8:p.Asn76Asp786203989187811
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