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ABCD4

Synonyms
ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L
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. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in several protein-coding and non-protein-coding variants.

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
5
Likely pathogenic
2
VUS
2,697
Likely benign
2,654
Benign
2

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on ABCD4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
42.9%
Abnormality of the musculoskeletal system
42.9%
Abnormality of the immune system
28.6%
Growth abnormality
28.6%
Abnormality of blood and blood-forming tissues
14.3%
Abnormality of head or neck
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the integument
14.3%
Abnormality of the nervous system
14.3%
Abnormality of the respiratory system
14.3%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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