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Protein-coding gene in the species Homo sapiens
Mitochondrial import inner membrane translocase subunit TIM16 also known as presequence translocated-associated motor subunit PAM16 , mitochondria-associated granulocyte macrophage CSF-signaling molecule , or presequence translocated-associated motor subunit PAM16 is a protein that in humans is encoded by the PAM16 gene .[ 5] [ 6] [ 7]
The PAM16 gene is located on the p arm of chromosome 16 at position 13.3 and it spans 11,150 base pairs.[ 5] PAM16 gene produces a 15.1 kDa protein composed of 137 amino acids .[ 8] [ 9] [ 10]
The PAM16 gene encodes for a mitochondrial protein with multiple functions. It is responsible for the regulation of ATP -dependent protein translocation into the mitochondrial matrix , inhibition of DNAJC19 stimulation of HSPA9 /Mortalin ATPase activity, and granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. Furthermore, PAM16 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 .[ 7] [ 6] [ 5]
Clinical Significance [ edit ] Mutations in the PAM16 gene has been shown to cause mitochondrial deficiencies and associated disorders. It is mainly associated with Megarbane-Dagher-Melike type spondylometaphyseal dysplasia , which is an autosomal recessive disease characterized by pre- and postnatal short stature , developmental delay , dysmorphic facial appearance, narrow chest , prominent abdomen , platyspondyly , short limbs , and other abnormalities of the skeleton .[ 6] [ 7] [ 5]
PAM16 has been known to interact with PAM18 , DNAJC19 , TIMM17A , FEZ1 , TRIM25 , MARC1 , and other proteins.[ 11] [ 6] [ 7]
^ a b c ENSG00000282228 GRCh38: Ensembl release 89: ENSG00000217930, ENSG00000282228 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014301 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b c d "Entrez Gene: Presequence translocase-associated motor 16 homolog (S. cerevisiae)" .public domain .^ a b c d
"PAM16 - Mitochondrial import inner membrane translocase subunit TIM16 - Homo sapiens (Human) - PAM16 gene & protein" . Retrieved 2018-08-07 .text available under the CC BY 4.0 license.
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^ "Mitochondrial import inner membrane translocase subunit TIM16" . Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) . Archived from the original on 2018-08-21. Retrieved 2018-08-21 .^ Jubinsky PT, Messer A, Bender J, Morris RE, Ciraolo GM, Witte DP, Hawley RG, Short MK (December 2001). "Identification and characterization of Magmas, a novel mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction" . Experimental Hematology . 29 (12): 1392– 402. doi :10.1016/s0301-472x(01)00749-4 PMID 11750097 . ^
Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi I, Sasarman F, Weraarpachai W, Shoubridge EA, Warscheid B, Rehling P (December 2012). "MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation" . Cell . 151 (7): 1528– 41. doi :10.1016/j.cell.2012.11.053 hdl :11858/00-001M-0000-000E-DDDF-4 PMID 23260140 .
Tagliati F, Gentilin E, Buratto M, Molè D, degli Uberti EC, Zatelli MC (October 2010). "Magmas, a gene newly identified as overexpressed in human and mouse ACTH-secreting pituitary adenomas, protects pituitary cells from apoptotic stimuli" . Endocrinology . 151 (10): 4635– 42. doi :10.1210/en.2010-0441 PMID 20719856 . Sinha D, Joshi N, Chittoor B, Samji P, D'Silva P (April 2010). "Role of Magmas in protein transport and human mitochondria biogenesis" . Human Molecular Genetics . 19 (7): 1248– 62. doi :10.1093/hmg/ddq002 . PMC 2838536 PMID 20053669 . Jubinsky PT, Short MK, Mutema G, Morris RE, Ciraolo GM, Li M (February 2005). "Magmas expression in neoplastic human prostate". Journal of Molecular Histology . 36 (1– 2): 69– 75. doi :10.1007/s10735-004-3840-8 . PMID 15704001 . S2CID 19453131 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
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This article incorporates text available under the CC BY 4.0 license.