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ACY1

ACY1

Reviewed May 2014

What is the official name of the ACY1 gene?

The official name of this gene is “aminoacylase 1.”

ACY1 is the gene's official symbol. The ACY1 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 ACY1 gene?

The ACY1 gene provides instructions for making an enzyme called aminoacylase 1, which is found in many tissues and organs, including the kidneys and the brain. This enzyme is involved in the breakdown of proteinswhen they are no longer needed. Many proteins in the body have a chemical group called an acetyl group attached to one end. This modification, called N-acetylation, helps protect and stabilize the protein. Aminoacylase 1 performs the final step in the breakdown of these proteins by removing the acetyl group from certain protein building blocks (amino acids). The amino acids can then be recycled and used to build other proteins.

How are changes in the ACY1 gene related to health conditions?

aminoacylase 1 deficiency - caused by mutations in the ACY1 gene

Several mutations in the ACY1 gene have been identified in people with a condition called aminoacylase 1 deficiency. This condition is characterized by delayed development of mental and motor skills and other neurological problems, although some people with the condition have no signs or symptoms. Most of the associated ACY1 gene mutations change single amino acids in the aminoacylase 1 enzyme. These and other ACY1 gene mutations lead to production of an aminoacylase 1 enzyme with little or no function. Without this enzyme's function, acetyl groups are not efficiently removed from a subset of amino acids (including methionine, glutamic acid, alanine, serine, glycine, leucine, valine, threonine, and isoleucine) during the breakdown of proteins. The excess N-acetylated amino acids are released from the body in urine. It is not known how a reduction of aminoacylase 1 function leads to neurological problems in people with aminoacylase 1 deficiency.

Where is the ACY1 gene located?

Cytogenetic Location: 3p21.1

Molecular Location on chromosome 3: base pairs 51,983,283 to 51,989,201

The ACY1 gene is located on the short (p) arm of chromosome 3 at position 21.1.

The ACY1 gene is located on the short (p) arm of chromosome 3 at position 21.1.

More precisely, the ACY1 gene is located from base pair 51,983,283 to base pair 51,989,201 on chromosome 3.

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

Where can I find additional information about ACY1?

You and your healthcare professional may find the following resources about ACY1 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 ACY1 gene or gene products?

  • ACY-1
  • ACY1D
  • acylase 1
  • aminoacylase-1
  • N-acyl-L-amino-acid amidohydrolase

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 ACY1?

acids ; alanine ; breakdown ; deficiency ; enzyme ; gene ; glutamic acid ; glycine ; isoleucine ; leucine ; methionine ; motor ; neurological ; protein ; serine ; threonine ; valine

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

See also Understanding Medical Terminology.

References (8 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: May 2014
Published: November 24, 2014