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ABCD1

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# SNPs88
 Max MagnitudeChromosome positionSummary
rs10575160527.7153,725,795
rs10575179547.7153,725,754
rs10575187210153,723,558
rs10647938770153,743,250
rs111468427.7153,743,056
rs11156606153,741,041
rs1286242137.7153,726,137
rs1286242147.7153,737,214
rs1286242157.7153,736,195
rs1286242167.7153,725,709
rs1286242177.7153,725,786
rs1286242187.7153,726,062
rs1286242197.7153,736,232
rs1286242207.7153,736,372
rs1286242217.7153,736,510
rs1286242227.7153,737,192
rs1286242237.7153,740,147
rs1286242247.7153,740,155
rs1286242257.7153,743,023
rs1414466877.7153,737,191
rs1450737017.7153,740,184
rs1465254457.7153,743,046
rs1503462827.7153,743,031
rs1939220937.7153,736,486
rs1939220940153,740,195
rs1939220977.7153,725,687
rs1939220987.7153,726,104
rs2011145957.7153,740,638
rs2014271537.7153,743,258
rs2015685797.7153,740,600
rs2021255857.7153,743,254
rs3739570357.7153,725,748
rs3879064947.7153,737,178
rs3879064957.7153,740,155
rs3879064967.7153,726,137
rs3879064977.7153,725,249
rs3981231007.7153,737,159
rs3981231027.7153,740,156
rs3981231030153,740,189
rs3981231040153,740,599
rs3981231057.7153,740,618
rs3981231067.7153,740,710
rs3981231077.7153,743,008
rs3981231087.7153,743,211
rs3981231090153,725,297
rs3981231107.7153,725,612
rs3981231110153,725,672
rs3981231127.7153,725,764
rs3981231130153,725,880
rs40106137.7153,743,055
... further results

From: Genetics Home Reference

The ABCD1 gene is located on the X chromosome, and it encodes the adrenoleukodystrophy protein (ALDP). ALDP is located in the membranes of cell structures called peroxisomes. Peroxisomes are small sacs within cells that process many types of molecules. ALDP brings a group of fats called very long-chain fatty acids (VLCFAs) into peroxisomes, where they are broken down.

More than 650 mutations in the ABCD1 gene have been found to cause X-linked adrenoleukodystrophy (many of which lack dbSNP rs-ids though). This condition is characterized by varying degrees of cognitive and movement problems as well as hormone imbalances. The mutations that cause X-linked adrenoleukodystrophy prevent the production of any ALDP in about 75 percent of people with this disorder. Other people with X-linked adrenoleukodystrophy can produce ALDP, but the protein is not able to perform its normal function. With little or no functional ALDP, VLCFAs are not broken down, and they build up in the body. The accumulation of these fats may be toxic to the adrenal glands (small glands on top of each kidney) and to the fatty layer of insulation (myelin) that surrounds many nerves in the body. Research suggests that the accumulation of VLCFAs triggers an inflammatory response in the brain, which could lead to the breakdown of myelin. The destruction of these tissues leads to the signs and symptoms of X-linked adrenoleukodystrophy. Note that there are three distinct types of X-linked adrenoleukodystrophy: a childhood cerebral form, an adrenomyeloneuropathy type, and a form called Addison disease only.

The prevalence of X-linked adrenoleukodystrophy is 1 in 20,000 to 50,000 individuals worldwide. This condition occurs with a similar frequency in all populations.

In popular culture, X-linked adrenoleukodystrophy has made an appearance through the 1993 movie 'Lorenzo's Oil', based on the true story of two parents and their search for a cure for their son. In the movie, the two parents were played by Nick Nolte and Susan Sarandon.

In 1989, the Odone's established The Myelin Project, a charity advancing research, advocacy, and family support for adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN). Efforts continue to find a cure.[1]