FADS1 - fatty acid desaturase 1 Gene

Homo sapiens

Also known as D5D; TU12; FADS6; FADSD5; LLCDL1

Gene ID: 3992 | Gene type: protein coding

About FADS1

Cytogenetic location: 11q12.2 Genomic coordinates (GRCh38): 11:61,799,627-61,817,003 (from NCBI)

This gene has 21 transcripts (splice variants), 209 orthologues and 3 paralogues. Broad expression in adrenal (RPKM 31.8), brain (RPKM 28.7) and 20 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]

FADS1 Products(1)

mRNA	Protein	Name
NM_013402.7	NP_037534.5	acyl-CoA (8-3)-desaturase

FADS1 Protein Structure

Cyt-b5

FA_desaturase

0
100
200
300
400
501 a.a.

Protein Preferred Names

Protein Names

acyl-CoA (8-3)-desaturase

delta(5) desaturase

Related Diseases

Diseases

Alias

Lipid Metabolism Disorder

Dyslipidemia	Disorder Of Fatty Acid Metabolism
Lipid Metabolism Disorders	Fatty Acid Metabolism Disorder
Disorder Of Lipid Metabolism	Abnormality Of Lipid Metabolism
Lipid Metabolism, Inborn Errors	Dyslipidemias
Disorders Of Lipid Metabolism	Congenital Disorders Of Lipid Metabolism
Inherited Disorders Of Lipid Metabolism

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

Fetal Akinesia Deformation Sequence 4

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

Vitelliform Macular Dystrophy

Best Disease	Juvenile-Onset Vitelliform Macular Dystrophy
Macular Dystrophy, Vitelliform	Best Macular Dystrophy
Vitelliform Dystrophy

Neuroblastoma

Nb	Neuroblastoma, Susceptibility To
Neuroblastomas	Central Neuroblastoma

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

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

Diabetes Mellitus

Diabetes

Type 2 Diabetes Mellitus

Insulin Resistance	NIDDM
Type 2 Diabetes	Diabetes Mellitus, Non-Insulin-Dependent
T2D	Noninsulin-Dependent Diabetes Mellitus
Diabetes Mellitus, Type Ii	Maturity-Onset Diabetes
Insulin Resistance, Severe, Digenic	Diabetes Mellitus, Type 2
Diabetes Mellitus, Noninsulin-Dependent	Diabetes Mellitus, Noninsulin-Dependent, Association With
Diabetes Mellitus, Noninsulin-Dependent, Late Onset	Hypertension, Insulin Resistance-Related, Susceptibility To
Insulin Resistance, Susceptibility To	Non-Insulin-Dependent Diabetes Mellitus
Type Ii Diabetes Mellitus	Adult-Onset Diabetes Mellitus
Maturity-Onset Diabetes Mellitus	Diabetes Mellitus Type 2
Type Ii Diabetes	Type 2 Diabetes Mellitus, Susceptibility To
Diabetes, Type 2	Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 2, Susceptibility To
Diabetes Mellitus, Noninsulin-Dependent, 2	Diabetes Mellitus, Type Ii, Susceptibility To
Hypertension, Insulin Resistance-Related	Adult-Onset Diabetes
Aodm	Diabetes Mellitus, Adult-Onset
Diabetes Mellitus Type Ii	Diabetes Mellitus Type 2, Susceptibility To
Diabetes, Type Ii, Susceptibility To	Diabetes Type 2
Diabetes Mellitus	Adult Onset Diabetes
Maturity Onset Diabetes	Nonketotic Diabetes
Non-Insulin Dependent Diabetes Mellitus	T2dm - [Type 2 Diabetes Mellitus]
Niddm - [Non Insulin Dependent Diabetes Mellitus]	Dm2
Dm Type Ii	Diabetic Type 2
Insulin Requiring Type 2 Diabetes	Noninsulin Dependent Diabetes
Non-Insulin-Dependent Diabetes Mellitus Without Complications	Diabetes Due To Insulin Secretory Defect
Diabetes Mellitus Due To Insulin Secretory Defect	Non-Insulin-Dependent Diabetes Of The Young
Senile Diabetes	Nonketotic Hyperglycaemia
Stable Diabetes

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
Obesity , Susceptibility To	BMIQ11
Obesity Bmiq11	Obesity, Early-Onset
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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-RS04666	FADS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	FADS1	MGD	MGI:1923517
Canis familiaris	FADS1	VGNC	VGNC:51870
Macaca mulatta	FADS1	VGNC	VGNC:72471
Rattus norvegicus	FADS1	RGD	RGD:621678
Bos taurus	FADS1	VGNC	VGNC:28701
Felis catus	FADS1	VGNC	VGNC:97427
Others	FADS1	NCBI

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