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GALT

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# SNPs238
 Max MagnitudeChromosome positionSummary
rs1057516720034,648,396
rs1057516877034,649,417
rs1057516883034,648,439
rs1057517240034,648,835
rs1057517415034,647,087
rs1057523885034,647,657
rs1057524572034,647,538
rs1064794295034,649,076
rs111033634034,646,745
rs111033635034,646,771
rs111033636034,646,786
rs111033637034,646,731
rs111033638034,646,722
rs111033639034,646,705
rs111033640334,646,586
rs111033643034,647,097
rs111033644034,647,101
rs111033645034,647,113
rs111033646034,647,119
rs111033647034,647,136
rs111033648034,647,158
rs111033649034,647,166
rs111033651034,647,140
rs111033652034,647,140
rs111033654034,647,169
rs111033655034,647,213
rs111033656034,647,203
rs111033658034,647,205
rs111033659034,647,226
rs111033660034,647,253
rs111033661034,647,490
rs111033662034,647,226
rs111033663034,647,227
rs111033664034,647,244
rs111033665034,647,247
rs111033666034,647,504
rs111033667034,647,655
rs111033668034,647,524
rs111033669034,647,529
rs111033670034,647,531
rs111033673034,647,682
rs111033674034,647,695
rs111033675034,647,696
rs111033676034,647,661
rs111033677034,647,665
rs111033678034,647,669
rs111033679034,647,678
rs111033680034,647,702
rs111033681034,647,706
rs111033682034,647,833
... further results

The GALT gene provides instructions for making an enzyme called galactose-1-phosphate uridylyltransferase. This enzyme enables the body to process a simple sugar called galactose, which is present in small amounts in many foods. Galactose is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas.GHR

More than 300 mutations in the GALT gene have been identified in people with the classic form of galactosemia, a condition that causes life-threatening signs and symptoms beginning shortly after birth. Most of these mutations severely reduce or eliminate the activity of galactose-1-phosphate uridylyltransferase. A shortage of this enzyme prevents cells from processing galactose obtained from the diet. As a result, galactose-1-phosphate and related compounds can build up to toxic levels in the body. The accumulation of these substances damages tissues and organs, leading to the serious medical problems associated with classic galactosemia.GHR

The most common GALT mutation in white Europeans and North Americans replaces the amino acid glutamine with the amino acid arginine at position 188 in the enzyme (written as Gln188Arg or Q188R; rs75391579). Another mutation occurs almost exclusively in people of African descent. This genetic change substitutes the amino acid leucine for the amino acid serine at position 135 (written as Ser135Leu or S135L; rs111033690).GHR

A particular GALT mutation called the Duarte variant results in a form of galactosemia with less serious complications than the classic type. This mutation replaces the amino acid asparagine with the amino acid aspartic acid at protein position 314 (written as Asn314Asp or N314D; rs2070074). The Duarte variant reduces but does not eliminate the activity of galactose-1-phosphate uridylyltransferase. The signs and symptoms associated with this variant tend to be milder because the enzyme retains 5 percent to 20 percent of its normal activity.GHR

A fairly well known deletion potentially resulting in galactosemia consists of a ~5kb+ chunk out of the GALT gene on ch 9, predominantly seen in Ashkenazi Jews.[PMID 17079880] Seen in perhaps up to 10% of carriers, it does wipe out several SNPs so it should be possible to predict a deletion based on seeing either (a) a significant run of "absent" calls for chromosomally adjacent SNPs, assuming homozygosity for deleted areas on both maternal and paternal chromosomes, or (b) seeing a statistically unlikely run of homozygosity for a string of chromosomally adjacent SNPs on an autosome, assuming the deletion is only occurring on one chromosome.

Technically, the 5kb deletion allele is complex, in that it involves a 3163-nt deletion of the GALT promoter and 5' gene region along with a 2295-bp deletion of a portion of towards the 3' end of the gene; only segments of exon 8 and intron 8 are retained [PMID 17079880].