2. Gene
  3. PAM16 - presequence translocase associated motor 16 Gene

PAM16 - presequence translocase associated motor 16 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：前序转位酶相关运动 16

种属: Homo sapiens

同用名: TIM16; MAGMAS; SMDMDM; TIMM16; CGI-136

基因 ID: 51025 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种参与粒细胞-巨噬细胞集落刺激因子 (GM-CSF) 信号传导的线粒体蛋白。这种蛋白质还在将核编码的线粒体蛋白质导入线粒体基质中发挥作用，并且可能在活性氧 (ROS) 稳态中很重要。该基因的突变会导致 Megarbane-Dagher-Melike 型脊椎骨干骺端发育不良，这是一种早期致死性骨骼发育不良，其特征是身材矮小、发育迟缓和其他骨骼异常。[RefSeq 提供，2017 年 5 月]

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 基因产物(1)

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

PAM16 蛋白结构

Pam16

Pam16: Pam16 (1 - 125)

  • 0
  • 100
  • 125 a.a.
蛋白主名 其他名称

mitochondrial import inner membrane translocase subunit TIM16

magmas-like protein

PAM16 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PAM16 Q9Y3D7 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
种属内
PAM16 Q9Y3D7 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
种属内
PAM16 Q9Y3D7 ARL6IP1 Homo sapiens Q15041
Y2H Prey Pooling
25416956
种属内
PAM16 Q9Y3D7 ARL6IP1 Homo sapiens Q15041
Validated Y2H
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10012 PAM16 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z