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ANKRD1

ANKRD1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the ANKRD1 gene?

The official name of this gene is “ankyrin repeat domain 1 (cardiac muscle).”

ANKRD1 is the gene's official symbol. The ANKRD1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ANKRD1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]

From UniProtThis link leads to a site outside Genetics Home Reference.:

May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells.

How are changes in the ANKRD1 gene related to health conditions?

Genetics Home Reference provides information about familial dilated cardiomyopathy, which is associated with changes in the ANKRD1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the ANKRD1 gene's known or predicted involvement in human disease.

Total anomalous pulmonary venous return (TAPVR): Rare congenital heart disease (CHD) in which the pulmonary veins fail to connect to the left atrium during cardiac development, draining instead into either the right atrium or one of its venous tributaries. This disease accounts for 1.5% of all CHDs and has a prevalence of approximately 1 out of 15'000 live births.[1]This link leads to a site outside Genetics Home Reference. The disease may be caused by mutations affecting the gene represented in this entry.

UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the ANKRD1 gene located?

Cytogenetic Location: 10q23.31

Molecular Location on chromosome 10: base pairs 90,912,099 to 90,921,274

The ANKRD1 gene is located on the long (q) arm of chromosome 10 at position 23.31.

The ANKRD1 gene is located on the long (q) arm of chromosome 10 at position 23.31.

More precisely, the ANKRD1 gene is located from base pair 90,912,099 to base pair 90,921,274 on chromosome 10.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ANKRD1?

You and your healthcare professional may find the following resources about ANKRD1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ANKRD1 gene or gene products?

  • ALRP
  • bA320F15.2
  • C-193
  • CARP
  • CVARP
  • MCARP

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ANKRD1?

atrium ; cardiac ; cell ; congenital ; endothelial cells ; gene ; hepatoma ; nucleus ; prevalence ; protein ; pulmonary ; transcription ; transcription factor ; veins

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: August 25, 2014