Anti -GPD1L (KIAA0089, Glycerol-3-phosphate Dehydrogenase 1-like Protein, GPD1-L)

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 3; NC_000003.11 (32148003..32210207). Location: 3p22.3

Polyclonal

IgG

Mouse

Recognizes human GPD1L. Species Crossreactivity: rat.

Affinity Purified
Purified by Protein A affinity chromatography.

Supplied as a liquid in PBS, pH 7.2.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Small volumes of anti-GPD1L antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS).

Antibodies; Abs to Enzymes, Dehydrogenase

Western Blot (WB)

Suitable for use in Western Blot.

38,419 Da[Similar Products]

glycerol-3-phosphate dehydrogenase 1-like

glycerol-3-phosphate dehydrogenase 1-like protein

Glycerol-3-phosphate dehydrogenase 1-like protein

KIAA0089; GPD1-L??[Similar Products]

GPD1L_HUMAN

The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS). [provided by RefSeq, Jul 2010]

Function: Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L. Ref.5 Ref.6

Catalytic activity: sn-glycerol 3-phosphate + NAD+ = glycerone phosphate + NADH.

Subunit structure: Interacts with SCN5A. Ref.5

Subcellular location: Cytoplasm. Note: Localized to the region of the plasma membrane. Ref.10

Tissue specificity: Most highly expressed in heart tissue, with lower levels in the skeletal muscle, kidney, lung and other organs. Ref.10

Involvement in disease: Brugada syndrome 2 (BRGDA2) [MIM:611777]: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.9

Sequence similarities: Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family.

Sequence caution: The sequence BAA07648.1 differs from that shown. Reason: Erroneous initiation.

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