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Rabbit Anti-GATAD1/FITC Conjugated antibody
background:
The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
Function:
ODAG (Ocular development-associated gene), a novel transcription factor located on chromosome 7, encodes a protein that may play a role in eye development. mRNA profiling in multiple human tissue indicates that ODAG is expressed in human CD56+ NK cells and thyroid tissue.
Subunit:
Component of a chromatin complex, at least composed of KDM5A, GATAD1 and EMSY.
Subcellular Location:
Nuclear
Tissue Specificity:
Ubiquitously expressed among various tissue types. Expressed in left ventricular myocytes.
DISEASE:
Defects in GATAD1 are the cause of cardiomyopathy, dilated type 2B (CMD2B) [MIM:614672]. CMD2B is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Similarity:
Contains 1 GATA-type zinc finger.
Database links:
Entrez Gene: 57798 Human
Entrez Gene: 67210 Mouse
SwissProt: Q8N5Y5 Human
SwissProt: Q8WUU5 Human
SwissProt: Q3TS14 Mouse
SwissProt: Q8VCQ2 Mouse
SwissProt: Q920S3 Mouse
SwissProt: Q9CSG2 Mouse
Unigene: 21145 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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