PNPLA7 - patatin like phospholipase domain containing 7 Gene

Homo sapiens

Also known as NTEL1; NTE-R1; C9orf111

Gene ID: 375775 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

cNMP_binding

Patatin

0
300
600
900
1200
1317 a.a.

Protein Preferred Names

Protein Names

patatin-like phospholipase domain-containing protein 7

Related Diseases

Diseases

Alias

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

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-RS10798	PNPLA7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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