FADS3 - fatty acid desaturase 3 Gene

Homo sapiens

Also known as CYB5RP; LLCDL3

Gene ID: 3995 | Gene type: protein coding

About FADS3

Cytogenetic location: 11q12.2 Genomic coordinates (GRCh38): 11:61,873,526-61,892,224 (from NCBI)

This gene has 13 transcripts (splice variants), 220 orthologues and 3 paralogues. Broad expression in fat (RPKM 37.4), placenta (RPKM 28.8) and 22 other tissues.

Summary

The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase Enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]

FADS3 Products(1)

mRNA	Protein	Name
NM_021727.5	NP_068373.1	fatty acid desaturase 3

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FADS3 Protein Structure

Cyt-b5

FA_desaturase

0
100
200
300
400
445 a.a.

Protein Preferred Names

Protein Names

fatty acid desaturase 3

cytochrome b5-related protein

Related Diseases

Diseases

Alias

Fetal Akinesia Deformation Sequence 4

FADS4	Fetal Akinesia Deformation Sequence Syndrome 4
Akinesia, Fetal, Deformation Sequence, Type 4

Hypobetalipoproteinemia, Familial, 1

Hypobetalipoproteinemia	Familial Hypobetalipoproteinemia 1
Familial Hypobetalipoproteinemia	FHBL1
Hypobetalipoproteinemia, Familial	Fhbl
Acanthocytosis With Hypobetalipoproteinemia	Hypobetalipoproteinemias
Hypobetalipoproteinemia, Normotriglyceridemic	Hypo-Beta-Lipoproteinemia
Hypobetalipoprotéinemia, Familial	Normotriglyceridemic Hypobetalipoproteinemia
Hypobetalipoproteinemia, Familial, Type 1

Hyperlipoproteinemia, Type V

Hyperlipoproteinemia Type V	Hyperchylomicronemia, Late-Onset
Familial Type 5 Hyperlipoproteinemia	Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial
Hyperlipidemia, Type V	Hyperlipemia, Mixed
Hyperlipemia, Combined Fat And Carbohydrate-Induced	Familial Hyperlipoproteinemia Type V
Fredrickson Type V Lipaemia	Hyperlipoproteinemia Type 5
Hyperchylomicronemia Late Onset	Hyperlipemia Combined Fat And Carbohydrate-Induced
Hyperlipemia Mixed	Hyperlipidemia Type V
Mixed Hyperlipemia	Type V Hyperlipoproteinemia
Hyperlipoproteinemia 5	HLPP5
Hyperlipidemia, Familial Combined	Mixed Hyperlipidemia

Hyperlipidemia, Familial Combined, 3

Familial Combined Hyperlipidemia	Combined Hyperlipidemia, Familial
Mixed Hyperlipidaemia	FCHL3
Hyperlipidemia, Familial Combined	Familial Multiple Lipoprotein-Type Hyperlipidemia
Hyperbetalipoproteinemia With Prebetalipoproteinemia	Type Iib Hyperlipoproteinemia
Hyperlipidemia Familial Combined	Hyperlipoproteinemia Type Iib
Mixed Hyperlipemia	Hyperlipidaemia, Group C
Familial Hypercholesterolaemia With Hyperlipaemia	Familial Hyperbetalipoproteinaemia And Hyperprebetalipoproteinaemia
Hyperbetalipoproteinaemia With Prebetalipoproteinaemia	Hypercholesterolaemia With Endogenous Hyperglyceridaemia
Prebetalipoproteinemia Hyperbetalipoproteinaemia	Remnant Hyperlipoproteinemia

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
Hsan1e	Hsan1
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy	Hsn1e
Hsnie	Hereditary Sensory Neuropathy Type Ie
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory And Autonomic Neuropathy Type 1e	Hereditary Sensory Neuropathy With Hearing Loss And Dementia
Dnmt1-Complex Disorder	Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
Hsn Ie	Hereditary Sensory Autonomic Neuropathy, Type 1
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence	Fads
Fetal Akinesia Sequence	FADS1
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia	Pena-Shokeir Syndrome Type 1
Fetal Akinesia Deformation Sequence Syndrome	Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia	Pena-Shokeir Syndrome, Type I
Foetal Akinesia Deformation Sequence Syndrome	Foetal Akinesia Sequence
Fetal Akinesia Deformation Sequence Syndrome 1	Pena-Shokeir Syndrome, Type 1
Pena Shokeir Syndrome, Type 1	Akinesia, Fetal, Deformation Sequence
Akinesia, Fetal, Deformation Sequence, Type 1	Pena-Shokeir Syndrome Type I

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-169080	ABCA1 inducer 1	Inducer	/	Unkown
HY-RS04668	FADS3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	FADS3	VGNC	VGNC:28703
Mus musculus	FADS3	MGD	MGI:1928740
Felis catus	FADS3	VGNC	VGNC:62039
Canis familiaris	FADS3	VGNC	VGNC:40565
Rattus norvegicus	FADS3	RGD	RGD:628876
Macaca mulatta	FADS3	VGNC	VGNC:72473

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