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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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
508
Likely pathogenic
4
VUS
16,312
Likely benign
209
Benign
1,789

Patient phenotypes

Proportions of phenotypes among 509 patients carring pathogenic or likely pathogenic variants on ABCD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.6%
Abnormality of the musculoskeletal system
30.6%
Abnormality of the eye
25%
Abnormality of head or neck
19.3%
Abnormality of the ear
19.3%
Growth abnormality
9.4%
Abnormality of the genitourinary system
7.3%
Abnormality of the cardiovascular system
6.3%
Abnormality of the integument
5.9%
Abnormality of limbs
5.3%
Abnormality of blood and blood-forming tissues
4.7%
Abnormality of the endocrine system
3.5%
Abnormality of the immune system
3.5%
Abnormality of the digestive system
2.8%
Abnormality of prenatal development or birth
1.8%
Abnormality of the respiratory system
1.2%
Abnormality of the breast
0.4%
Abnormality of the voice
0.4%
Constitutional symptom
0.2%
Neoplasm
0.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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