jueves, 17 de diciembre de 2015

HOGA1 - 4-hydroxy-2-oxoglutarate aldolase 1 - Genetics Home Reference

HOGA1 - 4-hydroxy-2-oxoglutarate aldolase 1 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the HOGA1 gene?

The official name of this gene is “4-hydroxy-2-oxoglutarate aldolase 1.”
HOGA1 is the gene's official symbol. The HOGA1 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 HOGA1 gene?

The HOGA1 gene provides instructions for making the 4-hydroxy-2-oxoglutarate aldolase (HOGA) enzyme. This enzyme is found in liver and kidney cells, specifically within structures called mitochondria, which are the energy-producing centers in cells. The HOGA enzyme is involved in breaking down a protein building block (amino acid) called hydroxyproline. Specifically, during the breakdown process, HOGA cuts (cleaves) a substance called 4-hydroxy-2-oxoglutarate to produce two smaller substances called pyruvate and glyoxylate. In mitochondria, pyruvate is likely involved in energy production, but the function of glyoxylate is unclear.

How are changes in the HOGA1 gene related to health conditions?

primary hyperoxaluria - caused by mutations in the HOGA1 gene
At least 24 mutations in the HOGA1 gene have been found to cause primary hyperoxaluria type 3. This condition is caused by the overproduction of a substance called oxalate. Excess amounts of this substance lead to kidney and bladder stones, which begin in early childhood and often result in blood in the urine (hematuria) and urinary tract infections. A specific mutation that alters the way the gene's instructions are used to make the enzyme (written as 700+5G>T) is present in about half of affected individuals. As a result of HOGA1 gene mutations, the HOGA enzyme cannot break down 4-hydroxy-2-oxoglutarate, which leads to a buildup of this substance in the mitochondria of liver cells.
It is unclear how an accumulation of 4-hydroxy-2-oxoglutarate leads to an overproduction of oxalate in people with primary hyperoxaluria type 3. Some researchers think that the accumulation of 4-hydroxy-2-oxoglutarate interferes with the activity of other enzymes, which lead to the accumulation of substances that get converted into oxalate. Other researchers think that excess 4-hydroxy-2-oxoglutarate in mitochondria may leak out into liver cells. Enzymes within these cells would then convert 4-hydroxy-2-oxoglutarate to glyoxylate, and then convert glyoxylate into oxalate. In individuals with primary hyperoxaluria type 3, the oxalate is filtered through the kidneys and is either excreted in urine as a waste product or combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones.

Where is the HOGA1 gene located?

Cytogenetic Location: 10q24.2
Molecular Location on chromosome 10: base pairs 97,584,345 to 97,612,802
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)
The HOGA1 gene is located on the long (q) arm of chromosome 10 at position 24.2.
The HOGA1 gene is located on the long (q) arm of chromosome 10 at position 24.2.
More precisely, the HOGA1 gene is located from base pair 97,584,345 to base pair 97,612,802 on chromosome 10.

Where can I find additional information about HOGA1?

You and your healthcare professional may find the following resources about HOGA1 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 HOGA1 gene or gene products?

  • DHDPS2
  • dihydrodipicolinate synthase-like, mitochondrial
  • dihydrodipicolinate synthetase homolog 2

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 HOGA1?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (7 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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