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PHYH

PHYH

Reviewed January 2010

What is the official name of the PHYH gene?

The official name of this gene is “phytanoyl-CoA 2-hydroxylase.”

PHYH is the gene's official symbol. The PHYH 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 PHYH gene?

The PHYH gene provides instructions for making an enzyme called phytanoyl-CoA hydroxylase. This enzyme is critical for the normal function of cell structures called peroxisomes. These sac-like compartments contain enzymes needed to break down many different substances, including fatty acids and certain toxic compounds.

One substance that is broken down in peroxisomes is phytanic acid, a type of fatty acid obtained from the diet (particularly from beef and dairy products). Phytanoyl-CoA hydroxylase is responsible for one of the first steps in breaking down phytanic acid as part of a process known as alpha-oxidation. In subsequent steps, additional enzymes in peroxisomes and other parts of the cell further process this compound into smaller molecules that the body can use for energy.

Researchers suspect that phytanoyl-CoA hydroxylase may have other functions in addition to its role in breaking down phytanic acid. For example, this enzyme appears to help determine the number of peroxisomes within cells and is involved in regulating their activity.

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

Refsum disease - caused by mutations in the PHYH gene

Mutations in the PHYH gene have been found to cause more than 90 percent of all cases of Refsum disease. About 30 mutations in this gene have been identified. These mutations alter the structure or production of phytanoyl-CoA hydroxylase, which reduces the enzyme's activity. A shortage of this enzyme disrupts the breakdown of phytanic acid in peroxisomes. As a result, phytanic acid and related compounds build up in the body's tissues. The accumulation of phytanic acid is toxic to cells, although it is unclear how an excess of this substance affects vision and smell and causes the other specific features of Refsum disease.

Where is the PHYH gene located?

Cytogenetic Location: 10p13

Molecular Location on chromosome 10: base pairs 13,277,795 to 13,300,137

The PHYH gene is located on the short (p) arm of chromosome 10 at position 13.

The PHYH gene is located on the short (p) arm of chromosome 10 at position 13.

More precisely, the PHYH gene is located from base pair 13,277,795 to base pair 13,300,137 on chromosome 10.

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

Where can I find additional information about PHYH?

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

  • LN1
  • LNAP1
  • PAHX
  • PAHX_HUMAN
  • PHYH1
  • phytanic acid oxidase
  • phytanoil-CoA alpha hydroxylase
  • phytanoyl-CoA 2 oxoglutarate dioxygenase
  • phytanoyl-CoA alpha-hydroxylase
  • phytanoyl-CoA dioxygenase, peroxisomal

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 PHYH?

acids ; breakdown ; cell ; CoA ; compound ; enzyme ; fatty acids ; gene ; oxidase ; oxidation ; peroxisomes ; toxic

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

See also Understanding Medical Terminology.

References (11 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.

 
Reviewed: January 2010
Published: December 16, 2014