Have questions? Visit https://www.reddit.com/r/SNPedia

ABCD1

From SNPedia

is agene
is mentioned by
ClinVarABCD1
GeneCardsABCD1
DiseasesABCD1
wikipediaABCD1
googleABCD1
gopubmedABCD1
EVSABCD1
HEFalMpABCD1
MyGene2ABCD1
23andMeABCD1
# SNPs55
 Max MagnitudeChromosome positionSummary
rs1057516052
rs1057517954
rs1057518721
rs1064793877
rs111468420153,743,056
rs11156606153,741,041
rs1286242130153,726,137
rs1286242140153,737,214
rs1286242150153,736,195
rs1286242160153,725,709
rs1286242170153,725,786
rs1286242180153,726,062
rs1286242190153,736,232
rs1286242200153,736,372
rs1286242210153,736,510
rs1286242220153,737,192
rs1286242230153,740,147
rs1286242240153,740,155
rs1286242250153,743,023
rs1503462820153,743,031
rs1939220930153,736,486
rs1939220940153,740,195
rs1939220970153,725,687
rs1939220980153,726,104
rs2015685790153,740,600
rs3879064940153,737,178
rs3879064950153,740,155
rs3879064960153,726,137
rs3981231000153,737,159
rs3981231020153,740,156
rs3981231030153,740,189
rs3981231040153,740,599
rs3981231050153,740,618
rs3981231060153,740,710
rs3981231070153,743,008
rs3981231080153,743,211
rs3981231090153,725,297
rs3981231100153,725,612
rs3981231110153,725,672
rs3981231120153,725,764
rs3981231130153,725,880
rs40106130153,743,055
rs4898368153,743,457
rs7139930500153,725,519
rs7275037860153,736,231
rs782041940
rs782083931
rs7970446100153,726,153
rs7970446110153,726,152
rs7970446250153,743,503
... 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]