Target intelligence / Profile preview

ATP binding cassette subfamily C member 6 pseudogene 2 (ABCC6P2)

Target
ABCC6P2
Molecular classification
Pseudogene, ABC transporter pseudogene
01

Overview

ATP binding cassette subfamily C member 6 pseudogene 2 (ABCC6P2) is a transcriptionally active pseudogene located on chromosome 16 near its protein-coding paralog ABCC6, a member of the ATP-binding cassette (ABC) C-subfamily of membrane transporters. ABCC6P2 consists of four exons with high sequence similarity (98–100%) to its parental gene. It cannot encode a functional transporter protein and is not considered a direct drug target, receptor, enzyme, or transporter. While ABCC6P2 itself does not produce protein, copy number variation involving its genomic sequence is significantly enriched in PXE patients and may impact the PXE phenotype by regulatory effects on ABCC6, for instance by influencing its expression levels. There is evidence that transcriptionally active ABC transporter pseudogenes, notably ABCC6P1, can modulate the mRNA abundance of their parental gene through regulatory interdependencies involving RNA stability and degradation pathways, though a direct functional role for ABCC6P2 has not been definitively established. No known drugs interact with ABCC6P2, and it does not serve as a recognized biomarker or pose safety issues relevant to therapy.

02

Biological functions

Regulatory RNA (potential, by analogy to ABCC6P1)Possible gene expression modulation of ABCC6 (supported by copy number variation studies)
03

Disease associations

Other (Genomic copy number variations involving ABCC6P2 are more frequently observed in patients with pseudoxanthoma elasticum (PXE), though it is not a *causative* gene for disease)

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