lunes, 28 de marzo de 2016

DOLK - dolichol kinase - Genetics Home Reference

DOLK - dolichol kinase - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the DOLK gene?

The official name of this gene is “dolichol kinase.”
DOLK is the gene's official symbol. The DOLK 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 DOLK gene?

The DOLK gene provides instructions for making the dolichol kinase enzyme, which facilitates the final step of the production of a compound called dolichol phosphate. This compound is critical for a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation changes proteins in ways that are important for their functions.
Dolichol kinase is found in the membrane of a cell compartment called the endoplasmic reticulum, which is involved in protein processing and transport. This enzyme adds a phosphate group (a cluster of oxygen and phosphorus atoms) to the compound dolichol to produce dolichol phosphate. During glycosylation, sugars are added to dolichol phosphate to build the oligosaccharide chain. Once the chain is formed, dolichol phosphate transports the oligosaccharide to the protein that needs to be glycosylated and attaches it to a specific site on the protein.
Dolichol phosphate is also needed for the formation of GPI anchors. These are complexes that attach (bind) to proteins and then bind to the outer surface of the cell membrane to ensure that the protein is available on the cell surface when needed.

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

DOLK-congenital disorder of glycosylation - caused by mutations in the DOLK gene
At least six mutations in the DOLK gene have been found to cause DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im). This condition often causes the heart to be weakened and enlarged (dilated cardiomyopathy), but it can also result in neurological problems as well as other signs and symptoms.
DOLK gene mutations change single protein building blocks (amino acids) in the dolichol kinase enzyme, leading to an enzyme with reduced or absent activity. Without properly functioning dolichol kinase, dolichol phosphate is not produced and glycosylation cannot proceed normally. In particular, a protein known to stabilize heart muscle fibers, called alpha-dystroglycan, has been shown to have reduced glycosylation in people with DOLK-CDG. Impaired glycosylation of alpha-dystroglycan disrupts its normal function, which damages heart muscle fibers as they repeatedly contract and relax. Over time, the fibers weaken and break down, leading to dilated cardiomyopathy. The other signs and symptoms of DOLK-CDG are likely due to the abnormal glycosylation of additional proteins in other organs and tissues.

Where is the DOLK gene located?

Cytogenetic Location: 9q34.11
Molecular Location on chromosome 9: base pairs 128,945,530 to 128,947,733
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)
The DOLK gene is located on the long (q) arm of chromosome 9 at position 34.11.
The DOLK gene is located on the long (q) arm of chromosome 9 at position 34.11.
More precisely, the DOLK gene is located from base pair 128,945,530 to base pair 128,947,733 on chromosome 9.

Where can I find additional information about DOLK?

You and your healthcare professional may find the following resources about DOLK 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 DOLK gene or gene products?

  • CDG1M
  • DK
  • DK1
  • dolichol kinase 1
  • KIAA1094
  • SEC59
  • SEC59 homolog
  • TMEM15
  • transmembrane protein 15

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 DOLK?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (5 links)

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

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