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solute carrier family 19 member 3

ال SLC19A3 gene provides instructions for making a protein called a thiamine transporter, which moves a vitamin called thiamine into cells. Thiamine, also known as vitamin B1, is obtained from the diet. It is involved in many cellular processes, and is necessary for proper functioning of the nervous system. Molecules made from thiamine are important in the breakdown of sugars and protein building blocks (amino acids). Thiamine is also involved in the production of certain chemicals that relay signals in the nervous system (neurotransmitters).

Normal function

ال SLC19A3 gene provides instructions for making a protein called a thiamine transporter, which moves a vitamin called thiamine into cells. Thiamine, also known as vitamin B1, is obtained from the diet. It is involved in many cellular processes, and is necessary for proper functioning of the nervous system. Molecules made from thiamine are important in the breakdown of sugars and protein building blocks (amino acids). Thiamine is also involved in the production of certain chemicals that relay signals in the nervous system (neurotransmitters).

Conditions referring to this gene or chromosome

Other names

BBGD

S19A3_HUMAN

solute carrier family 19 (thiamine transporter), member 3

solute carrier family 19, member 3

thiamine transporter 2

THMD2

thTr-2

THTR2

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تكور الدم الوراثي

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التليف الكيسي

Patient information leaflet

التليف الكيسي

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داء ترسب الأصبغة الدموية

Patient information leaflet

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Patient information leaflet

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The weakness develops gradually. It usually starts to be seen in early childhood. Symptoms are mild at first but increase as the child becomes older. The name Duchenne comes from the doctor who first studied this condition. How common is Duchenne muscular dystrophy. About 1 in 3,500 boys in the UK are born with DMD. There are other types of.

مرض الكلى المتعدد الكيسات

Patient information leaflet

مرض الكلى المتعدد الكيسات

This is an hereditary condition caused by a faulty gene which is inherited from one parent. Autosomal recessive polycystic kidney disease (ARPKD) This is a rare condition which affects about 1 in 20,000 people. Although people with PKD often develop kidney failure (end-stage kidney disease) between ages 55 to 65 years, some people with PKD have a.

مرض ويلسون

Patient information leaflet

مرض ويلسون

It is a rare. It is named after Dr Samuel Wilson who first described the disorder in 1912. When the copper storage capacity of the liver cells is exhausted, the copper spills into the bloodstream and deposits copper in o... How is Wilson's disease inherited. مرض ويلسون هو an autosomal recessive disorder. This means that, in order to develop.

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