Target intelligence / Profile preview

ATP binding cassette subfamily D member 1 pseudogene 4 (ABCD1P4)

Target
ABCD1P4
Molecular classification
Pseudogene, Non-coding DNA
01

Overview

ATP binding cassette subfamily D member 1 pseudogene 4 (ABCD1P4) is a human pseudogene closely related in sequence to the functional ABCD1 gene, which codes for a peroxisomal transporter involved in the metabolism of very-long-chain fatty acids. ABCD1P4 does not produce a functional protein product. Its main significance is as a genomic sequence that can interfere with genetic analyses for mutations and disorders involving ABCD1, such as X-linked adrenoleukodystrophy; careful design of assays is required to distinguish it from the protein-coding allele.

Other names
ATP-binding cassette, sub-family D (ALD), member 1 pseudogene 4ABCD1 pseudogene 4ALD pseudogene 4
02

Biological functions

No direct protein-coding or classical biological functionPossible regulatory role through interference or competition with parental gene transcripts
03

Disease associations

No direct disease-causing roleImportant for genetic testing and potential confounding in diagnostics for X-linked adrenoleukodystrophy (ALD) because it shares high homology with the protein-coding ABCD1 gene
04

Safety considerations

Diagnostic interference: Pseudogene sequences (including ABCD1P4) may cause false positives/negatives in genetic testing for ABCD1/ALD, due to high sequence homology complicating test specificity

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