SARDH - sarcosine dehydrogenase Gene

Homo sapiens

Also known as SAR; SDH; SARD; BPR-2; DMGDHL1

Gene ID: 1757 | Gene type: protein coding

About SARDH

Cytogenetic location: 9q34.2 Genomic coordinates (GRCh38): 9:133,659,418-133,739,955 (from NCBI)

This gene has 7 transcripts (splice variants), 200 orthologues, 10 paralogues and is associated with 1 phenotype. Biased expression in liver (RPKM 15.5), kidney (RPKM 6.4) and 6 other tissues.

Summary

This gene encodes an Enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This Enzyme is distinct from another mitochondrial matrix Enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]

SARDH Products(2)

mRNA	Protein	Name
NM_001134707.2	NP_001128179.1	sarcosine dehydrogenase, mitochondrial precursor
NM_007101.4	NP_009032.2	sarcosine dehydrogenase, mitochondrial precursor

SARDH Protein Structure

DAO

GCV_T

GCV_T_C

0
200
400
600
800
918 a.a.

Protein Preferred Names

Protein Names

sarcosine dehydrogenase, mitochondrial

dimethylglycine dehydrogenase-like 1

Related Diseases

Diseases

Alias

Sarcosinemia

Sarcosine Dehydrogenase Complex Deficiency	Sard Deficiency
Sardh Deficiency	SARCOS
Hypersarcosinemia	Sardhd
Demethylation Defect Of N-Methylglycine

Dimethylglycine Dehydrogenase Deficiency

Dmgdh Deficiency	DMGDHD
Dmg Dehydrogenase Deficiency	Deficiency, Dimethylglycine Dehydrogenase

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Glycine N-Methyltransferase Deficiency

GNMT DEFICIENCY	Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency
Hypermethioninemia Due To Gnmt Deficiency	Hypermethioninemia
Hepatic Methionine Adenosyltransferase Deficiency

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency	Deficiency Of Methionine Adenosyltransferase
Glycine N-Methyltransferase Deficiency	Met
S-Adenosylhomocysteine Hydrolase Deficiency	Gnmt Deficiency
Mat Deficiency	Methionine Adenosyltransferase Deficiency
Methioninemia	Deficiency Of Acetyl-Coa Acetyltransferase

Variegate Porphyria

Porphyria Variegata	Protoporphyrinogen Oxidase Deficiency
VP	Ppox Deficiency
Porphyria, South African Type	Porphyria Variegata, Susceptibility To
Protocoproporphyria	Porphyria Variegate
Porphyria South African Type	Pv
Porphyria, Variegate	Vp - [Variegate Porphyria]

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

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-RS12445	SARDH Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SARDH	VGNC	VGNC:45867
Bos taurus	SARDH	VGNC	VGNC:34289
Rattus norvegicus	SARDH	RGD	RGD:621125
Felis catus	SARDH	VGNC	VGNC:64874
Mus musculus	SARDH	MGD	MGI:2183102
Macaca mulatta	SARDH	VGNC	VGNC:76971

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