Obesity Disease

1. Obesity is an excess of body fat; doctors generally agree that men with more than 25% body fat and women with more than 30% are obese. Obesity is a known risk factor for chronic diseases including heart disease, diabetes, high blood pressure, stroke and some forms of cancer.
2. Gene Name: Leptin, GeneID: 3952, also known as OB; OBS; FLJ94114; LEP
3. This gene encodes a protein that is secreted by white adipocytes, and which plays a major role is the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass.

Gaucher's Disease

Gaucher's disease is a hereditary deficiency of an enzyme called glucocerebrosidase, - an enzyme needed by the body to break down a certain type of fatty substance in our body. Once the enzyme becomes inactive, the fat accumulates mostly in the spleen, liver, and bone marrow which can lead to fatigue, liver malfunction, skeletal disorders, or even death.

Its gene name is GBA and GeneID:2629

Glucocerebrosidase normal function in the body is to be able to break down a type of fat called glucocerebroside.

Tangier Disease

Tangier Disease or TD is a genetic disorder of cholesterol transport. Tangier disease is named after the island of Tangier located off the coast of Virginia. TD was first discovered on a five year old who was an inhabitant of the Tangier island. The five year old had orange tonsils and very low levels of HDL, and an enlarged liver and spleen. TD is caused by mutations in the ABC1 (ATP-binding cassette) gene on chromosome 9q31. People diagnosed with TD are not able to eliminate cholesterol from cells, which then causes the cholesterol to buildup in the tonsils and other organs.

The gene name for Tangier Disease is ABCA1 and the gene ID is 19.

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes.

Glucose Galactose Malabsorptions

1.Glucose Galactose Malabsorptions is a rare metabolic disease. This disease is associated with nonfunctioning or malfunctioning of SGLT1 gene which causes accumulation of glucose and galactose in the intestinal lumen which leads to diarrhea and possible death if diete is not changed.

2. Gene's name: SGLT1, Gene ID: 723986

3.SGLT1 gene is located on chromosome 22 and its function is to move glucose and the galactose, the products of lactose, from the lumen of the small intestine into intestinal cells.

Zellweger syndrome

Zellweger is a genetic hereditory disease affecting infants. Some of the signs are enlarged liver, high iron level in blood, affected vision, among others. Infants with Zellweger are said to have poor muscle tone, sometimes to the point of immobility.

There are at least 12 genes that are said to individually beresponsible for Zellweger syndrome. One of them is the homosapien peroxisomal biogenesis factor (PEX1) on chromosome 7. Its Gene ID is 5189.

The responsible genes code for the assembly for peroxisomes. The mutation in the genes results the absence of the peroxisomes. PEX1 gene encodes for a member of the AAA ATPase family that's associated with various cellular functions. The encoded protein belongs in the cytoplasm, but is often anchored to the peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisomal biogenesis.

Wilson's Disease: Bio 440 (Ken Kubo)

Wilson disease occurs when your body retains copper. Wilson disease is a rare and inherited disorder. Our liver would normally release any copper that it does not need into bile. When a person has Wilson disease this does not happen. Copper will build up in your liver and injures liver tissue. The damage causes your liver to release the copper directly into your bloodstream. Then the blood carries copper all over your body. Too much copper can damage your kidneys, liver, brain and eyes.

The gene for Wilson's disease (ATP7B) is mapped to chromosome 13. The GeneID is 540.

The gene is associated with the P-type cation transport ATPase family and encodes a protein with membrane-spanning domains. The protein works by exporting copper out of the cells.

Phenylketonuria (PKU)

Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by an insufficient amount of the enzyme phenylalanine hydroxylase. Furthermore, a lack of this enzyme can produce mental retardation, organ impairment, abnormal posture, and if a woman is pregnant, the pregnancy is considered high risk.

PKU's gene name is Phenylanlanine hydroxylase (PAH), and the Gene ID number is 5053.

Phenylalanine is an essential amino acid, and the body must get them from food to build the proteins that make up the tissues and keep them working. Thus, phenylalanine is required for normal development.