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PAM16 - presequence translocase associated motor 16 Gene

Also Known as TIM16; MAGMAS; SMDMDM; TIMM16; CGI-136

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51025

About PAM16

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:4,340,251-4,351,321 (from NCBI)

This gene has 15 transcripts (splice variants), 1 gene allele, 162 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 9.8), adrenal (RPKM 6.6) and 25 other tissues.

Summary

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]

PAM16 Products (1)

mRNA	Protein	Name
NM_016069.11	NP_057153.8	mitochondrial import inner membrane translocase subunit TIM16

PAM16 Protein Structure

Pam16

0
100
125 a.a.

Protein Preferred Names	Protein Names
mitochondrial import inner membrane translocase subunit TIM16	magmas-like protein

PAM16 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PAM16	Q9Y3D7	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	PAM16	Q9Y3D7	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	PAM16	Q9Y3D7	ARL6IP1	Homo sapiens	Q15041	Y2H Prey Pooling	25416956
Intra	PAM16	Q9Y3D7	ARL6IP1	Homo sapiens	Q15041	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	SMDMDM Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type Spondylometaphyseal Dysplasia Megarbane-Dagher-Melike Type Chondrodysplasia, Megarbane-Dagher-Melki Type Megarbane-Dagher-Melike Type Chondrodysplasia Chondrodysplasia, Megarbane-Dagher-Melike Type Dysplasia, Spondylometaphyseal, Megarbane-Dagher-Melike Type
3-Methylglutaconic Aciduria, Type V	3-Methylglutaconic Aciduria Type 5 Mga5 MGCA5 Dcma Dcma Syndrome Dilated Cardiomyopathy With Ataxia 3-Methylglutaconic Aciduria Type V Mga Type V Cardiomyopathy, Dilated, With Ataxia Mga, Type V Dilated Cardiomyopathy With Ataxia Syndrome Dnajc19 Defect 3-Methylglutaconic Aciduria 5 3-Alpha-Methylglutaconic Aciduria Type 5 3-@Methylglutaconic Aciduria, Type V
Combined Oxidative Phosphorylation Deficiency 31	Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome COXPD31
Schneckenbecken Dysplasia	SHNKND Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis Chondrodysplasia Lethal Neonatal With Snail Like Pelvis Chondrodysplasia With Snail-Like Pelvis Slc35d1-Cdg Dysplasia, Schneckenbecken
3-Methylglutaconic Aciduria	3-Methyl Glutaconic Aciduria
African Histoplasmosis
Spondylometaphyseal Dysplasia, Sedaghatian Type	SMDS Sedaghatian Chondrodysplasia Spondylometaphyseal Dysplasia Sedaghatian Type Congenital Lethal Metaphyseal Chondrodysplasia Metaphyseal Chondrodysplasia, Congenital Lethal Lethal Metaphyseal Dysplasia
Sengers Syndrome	Mitochondrial Dna Depletion Syndrome 10 Cardiomyopathy And Cataract Cataract And Cardiomyopathy MTDPS10 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10 Senger Syndrome
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Spondylometaphyseal Dysplasia Strudwick Syndrome Dappled Metaphysis Syndrome Semd, Strudwick Type Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type Smed, Strudwick Type Smd Smed Strudwick Type SEMDSTWK Smed, Type I Semdc Smed Type 1 Spondyloepimetaphyseal Dysplasia Strudwick Type Sed Strudwick Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type Smed Type I Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses Dysplasia, Spondyloepimetaphyseal, Strudwick Type Dysplasia, Spondylometaphyseal
Anauxetic Dysplasia 1	Anauxetic Dysplasia Spondylometaepiphyseal Dysplasia, Menger Type Spondylometaepiphyseal Dysplasia, Anauxetic Type Spondyloepimetaphyseal Dysplasia, Anauxetic Type ANXD1 Anxd Spondylometaepiphyseal Dysplasia Anauxetic Type Spondylometaepiphyseal Dysplasia Menger Type Ad Spondyloepimetaphyseal Dysplasia, Menger Type Dysplasia, Anauxetic, Type 1
Male Reproductive Organ Benign Neoplasm
Charcot-Marie-Tooth Disease X-Linked Recessive 4	Cmt4x Cmtx4 Cowchock Syndrome X-Linked Charcot-Marie-Tooth Disease Type 4 Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation Charcot-Marie-Tooth Disease With Deafness And Mental Retardation Nadmr Namsd

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10012	PAM16 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19468	Pam16 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25961	Pam16 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PAM16	VGNC	VGNC:57355
Felis catus	PAM16	VGNC	VGNC:80637
Mus musculus	PAM16	MGD	MGI:1913699
Rattus norvegicus	PAM16	RGD	RGD:1598163
Canis familiaris	PAM16	VGNC	VGNC:54054
Others	PAM16	NCBI