PAM16 - presequence translocase associated motor 16 Gene

Homo sapiens

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

Gene ID: 51025 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10012	PAM16 Human Pre-designed siRNA Set A		/	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

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