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ABCD1

Synonyms
ABC42, ALD, ALDP, AMN
External resources
Summary
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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
679
Likely pathogenic
10
VUS
26,092
Likely benign
8,097
Benign
1,037

Patient phenotypes

Proportions of phenotypes among 619 patients carrying pathogenic or likely pathogenic variants on ABCD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.5%
Abnormality of the musculoskeletal system
29.6%
Abnormality of the eye
22.6%
Abnormality of head or neck
18.7%
Abnormality of the ear
17.6%
Abnormality of the cardiovascular system
10.5%
Growth abnormality
9.9%
Abnormality of the genitourinary system
9%
Abnormality of the integument
7.9%
Abnormality of limbs
6.9%
Abnormality of blood and blood-forming tissues
4.7%
Abnormality of the endocrine system
3.7%
Abnormality of the immune system
3.2%
Abnormality of the digestive system
2.9%
Abnormality of prenatal development or birth
1.5%
Abnormality of the respiratory system
1.5%
Abnormality of the voice
0.5%
Abnormality of the breast
0.3%
Constitutional symptom
0.3%
Neoplasm
0.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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