What chromosome is the ASPA gene on?

What is the ASPA gene?

The ASPA gene provides instructions for making an enzyme called aspartoacylase. In the brain, this enzyme breaks down a compound called N-acetyl-L-aspartic acid (NAA) into aspartic acid (an amino acid that is a building block of many proteins) and another molecule called acetic acid.

What kind of gene mutation is Canavan disease?

Canavan disease occurs because of mutations in the aspartoacylase (ASPA) gene that affects the breakdown (metabolism) of the N-acetylaspartic acid (NNA). It is inherited as an autosomal recessive condition. Canavan disease belongs to a group of disorders known as the leukodystrophies.

What does aspartoacylase enzyme do?

Aspartoacylase catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate, and is the only brain enzyme that has been shown to effectively metabolize NAA.

Is ASPA a protein?

ASPA (Aspartoacylase) is a Protein Coding gene. Diseases associated with ASPA include Canavan Disease and Leukodystrophy.

What does the BLM gene do?

The BLM gene provides instructions for making a member of a protein family called RecQ helicases. Helicases are enzymes that attach (bind) to DNA and unwind the two spiral strands (double helix) of the DNA molecule.

What chromosome is ASPA gene on?


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Location (UCSC) Chr 17: 3.47 – 3.5 Mb Chr 11: 73.3 – 73.33 Mb
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Is Canavan disease a point mutation?

Abstract. Canavan disease is an autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase (ASPA). Sixty-four probands were analyzed for mutations in the ASPA gene. Three point mutations–693C–>A, 854A–>C, and 914C–>A–were identified in the coding sequence.

How does Canavan disease affect chromosome 17?

It is caused by a deficiency of the enzyme aminoacylase 2, and is one of a group of genetic diseases referred to as leukodystrophies. It is characterized by degeneration of myelin in the phospholipid layer insulating the axon of a neuron and is associated with a gene located on human chromosome 17.

What protein is affected by Canavan disease?

Canavan disease (CD) is a rare pediatric leukodystrophy caused by inactivating mutations of the aspartoacylase (ASPA) gene, located on human chromosome 17p13. 2, and encoding for the ASPA protein.

What is asparagine classified?

Asparagine is a non-essential amino acid in humans, Asparagine is a beta-amido derivative of aspartic acid and plays an important role in the biosynthesis of glycoproteins and other proteins.

Is aspartic acid soluble in water?

Aspartic acid

Density 1.7 g/cm3
Melting point 270 °C (518 °F; 543 K)
Boiling point 324 °C (615 °F; 597 K) (decomposes)
Solubility in water 4.5 g/L