2. Gene
  3. PNPLA7 - patatin like phospholipase domain containing 7 Gene

PNPLA7 - patatin like phospholipase domain containing 7 Gene

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

中文名称：含 patatin 样磷脂酶结构域 7

种属: Homo sapiens

同用名: NTEL1; NTE-R1; C9orf111

基因 ID: 375775 | 基因类型: protein coding

关于 PNPLA7

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:137,459,952-137,550,402 (from NCBI)

This gene has 7 transcripts (splice variants), 281 orthologues and 1 paralogue. Ubiquitous expression in prostate (RPKM 6.3), skin (RPKM 4.2) and 24 other tissues.

功能概要

人类 patatin 样磷脂酶，如 PNPLA7，与脂肪细胞分化的调节有关，并已被代谢刺激诱导 (Wilson 等人，2006 [PubMed 16799181]) 。[OMIM 提供，2008 年 6 月]

Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008]

PNPLA7 基因产物(2)

mRNA Protein Name
NM_001098537.3 NP_001092007.2 patatin-like phospholipase domain-containing protein 7 isoform a
NM_152286.5 NP_689499.4 patatin-like phospholipase domain-containing protein 7 isoform b

PNPLA7 蛋白结构

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (164 - 260)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (478 - 567)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (595 - 684)

Patatin

Patatin: Patatin-like phospholipase (928 - 1093)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1317 a.a.
蛋白主名 其他名称

patatin-like phospholipase domain-containing protein 7

关联疾病

疾病名称 别名
Spastic Paraplegia 39, Autosomal Recessive

SPG39

Ntemnd

Hereditary Spastic Paraplegia 39

Nte-Related Motor Neuron Disorder

Autosomal Recessive Spastic Paraplegia Type 39

Spastic Paraplegia Due To Neuropathy Target Esterase Mutation

Spastic Paraplegia Due To Nte Mutation

Spastic Paraplegia 39

Autosomal Recessive Spastic Paraplegia 39

Nte Related Motor Neuron Disorder

Paraplegia, Spastic, Type 39
Oliver-Mcfarlane Syndrome

Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome

OMCS

Long Eyelashes-Intellectual Disability Syndrome

Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina

Eyelashes, Long, With Mental Retardation

Eyelashes Long Mental Retardation

Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration

Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Of Retina

Eyelashes, Long With Intellectual Disability

Oliver Mcfarlane Syndrome

Congenital Trichomegaly, Pigmentary Retinal Degeneration, And Short Stature

Trichomegaly, Retina Pigmentary Degeneration, Dwarfism

Trichomegaly Retina Pigmentary Degeneration Dwarfism
Charcot-Marie-Tooth Disease, Axonal, Type 2p

CMT2P

Charcot-Marie-Tooth Disease Axonal Type 2p

Charcot-Marie-Tooth Disease Type 2p

Charcot-Marie-Tooth Neuropathy, Type 2p

Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly

Cmt2g, Formerly

Charcot-Marie-Tooth Neuropathy Type 2p

Charcot-Marie-Toothe Disease, Axonal, Type 2p

Charcot-Marie-Tooth Disease 2p

Charcot-Marie-Tooth Disease, Axonal Type 2g

Charcot-Marie-Tooth Neuropathy Axonal Type 2p

Cmt2g

Charcot-Marie-Tooth Disease, Type 2p

Charcot-Marie-Tooth Disease, Axonal, Type 2g
Li-Fraumeni Syndrome 1

Lfs1
Chanarin-Dorfman Syndrome

Neutral Lipid Storage Disease

CDS

Neutral Lipid Storage Disease With Ichthyosis

Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation

Triglyceride Storage Disease With Ichthyosis

Nlsdi

Ichthyotic Neutral Lipid Storage Disease

Dorfman-Chanarin Syndrome

Dcs

Chanarin-Dorfman Disease

Ichthyosiform Erythroderma With Leukocyte Vacuolation

Lipidosis With Triglyceride Storage Disease

Disorder Of Cornification 12

Dorfman Chanarin Syndrome

Neutral Lipid Storage Disease With Ichthyotic

Dorfman-Chanarin Disease
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-RS10798 PNPLA7 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus PNPLA7 VGNC VGNC:64268
Mus musculus PNPLA7 MGD MGI:2385325
Macaca mulatta PNPLA7 VGNC VGNC:76104
Bos taurus PNPLA7 VGNC VGNC:33094
Canis familiaris PNPLA7 VGNC VGNC:44757
Rattus norvegicus PNPLA7 RGD RGD:708466
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