ACADM Gene

Defintion:
ACADM (acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain) is a gene that provides instructions for making an enzyme called acyl-coenzyme
Chromosome: Chromosome 1

Location: 1p31 (75962870 to 76001771)

Size Of Gene: 38902 bp

Locus :RP4-682C21.1

Number of Exons: 12

Number Of Introns : 11

Description: A dehydrogenase that is important for breaking down (degrading) a certain group of fats called medium-chain fatty acids. These fatty acids are found in foods such as milk and certain oils, and they are also stored in the body's fat tissue. Medium-chain fatty acids are also produced when larger fatty acids are degraded. The acyl-coenzyme A dehydrogenase for medium-chain fatty acids (ACADM) enzyme is essential for converting these particular fatty acids to energy, especially during periods without food (fasting). The ACADM enzyme functions in mitochondria, the energy-producing centers within cells. It is found in the mitochondria of several types of tissues, particularly the liver.

Related conditions

Medium-chain acyl-coenzyme A dehydrogenase deficiency can be caused by mutations in the ACADM gene. More than 30 ACADM gene mutations that cause medium-chain acyl-coenzyme A dehydrogenase deficiency have been identified. Many of these mutations switch an amino acid building block in the ACADM enzyme. The most common amino acid substitution replaces lysine with glutamic acid at position 304 in the enzyme's chain of amino acids (also written as Lys304Glu or K304E). This mutation and other amino acid substitutions alter the enzyme's structure, reducing or abolishing its activity. Other mutations delete or duplicate part of the ACADM gene, which leads to an unstable enzyme that cannot function.

With a shortage (deficiency) of functional ACADM enzyme, medium-chain fatty acids cannot be degraded and processed. As a result, these fats are not converted into energy, which can lead to characteristic symptoms of this disorder, such as lack of energy (lethargy) and low blood sugar. Levels of medium-chain fatty acids or partially degraded fatty acids may build up in tissues and can damage the liver and brain, causing more serious complications.

Protein Coded:NP_000007

"ACADM." Wikipedia, The Free Encyclopedia. 30 Aug 2008, 20:53 UTC. 14 Oct 2008 <http://en.wikipedia.org/w/index.php?title=ACADM&oldid=235248417>.

TSHB Gene

The official name of TSHB gene is thyroid stimulating hormone, beta.The TSHB gene provides instructions for making a protein subunit of a hormone called thyroid stimulating hormone (TSH). Thyroid stimulating hormone consists of two subunits called alpha and beta. The TSHB gene provides instructions for making the beta (B) subunit of thyroid stimulating hormone. The alpha and beta subunits are bound together to produce the active form of the hormone. A particular segment of the beta subunit, known as the buckle or seatbelt, wraps around the alpha subunit to form the functional hormone.

Thyroid stimulating hormone is made in the pituitary gland, a gland at the base of the brain. This hormone plays an important role in the growth and function of the thyroid gland, a butterfly-shaped tissue in the lower neck. It also stimulates the production of thyroid hormones, which play a critical role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). The pituitary gland monitors levels of thyroid hormones. When thyroid hormone levels are too low, the pituitary gland releases thyroid stimulating hormone into the bloodstream. Thyroid stimulating hormone, in turn, signals increased thyroid gland growth and production of thyroid hormones.

Location:

TSHB gene is present in human chromosome 1 and ts coded from region 115373938 to 115378464, the cytogenetic location 1p13

Disease

Researchers have identified several TSHB mutations that alter the size or shape of the thyroid stimulating hormone beta subunit. Many of these mutations affect the beta subunit's seatbelt region, which holds the alpha subunit in place and stabilizes the hormone's structure. Some mutations severely shorten the beta subunit, eliminating the seatbelt region partially or entirely. Other mutations change the chemical building blocks (amino acids) used to make the beta subunit. As a result, the seatbelt region cannot buckle around the alpha subunit. TSHB mutations prevent the production of functional thyroid stimulating hormone or its release (secretion) from the pituitary gland. As a result, thyroid hormone production is not stimulated, leading to low hormone levels that are characteristic of congenital hypothyroidism. Additionally, the thyroid gland is reduced in size (hypoplastic) because its growth is not stimulated.

PINK1 gene

The official name of this gene is PTEN induced putative kinase 1,Gene provides informations to produce serine/threonine protein kinase that localizes to mitochondria,it is function of PTEN induced putative kinase 1 is not fully understood. It appears to help protect mitochondria from malfunctioning during periods of cellular stress, such as unusually high energy demands,Researchers believe that two specialized regions of PTEN induced putative kinase 1 are essential for the protein to function properly. One region, called the mitochondrial-targeting motif, serves as a delivery address. The protein is produced outside the mitochondria, and this motif helps ensure that it is delivered to the mitochondria. Another region, called the kinase domain, probably carries out the protein's protective function.

Location :PINK1 gene is present chromosome 1 and coded from 20,832,534 to 20,850,590 region ,the cytogenetic location is 1p36 ,The gene size is 18057 bp with 8 exons.

Disease:

Researchers have identified more than 20 PINK1 mutations that cause early-onset Parkinson disease. Some mutations change one of the protein building blocks (amino acids) used to make PTEN induced putative kinase 1. Other mutations lead to an abnormally small version of the protein. Many PINK1 mutations alter or eliminate the kinase domain, leading to a loss of protein function. At least one mutation affects the mitochondrial-targeting motif and may disrupt delivery of the protein to mitochondria. With reduced or absent PTEN induced putative kinase 1 activity, mitochondria may malfunction, particularly when cells are stressed. Cells can die if power is not provided for essential activities. It is unclear how PINK1 mutations cause the selective death of nerve cells that characterizes Parkinson disease.

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