SARDH - sarcosine dehydrogenase Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1757

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

DAO: FAD dependent oxidoreductase (69 - 427)

GCV_T

GCV_T: Aminomethyltransferase folate-binding domain (570 - 797)

GCV_T_C

GCV_T_C: Glycine cleavage T-protein C-terminal barrel domain (807 - 872)

  • 0
  • 200
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  • 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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12445 SARDH Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22795 Sardh Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29309 Sardh Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others SARDH NCBI