PEX5(redirected from OTTHUMP00000238194)
PEX5A gene on chromosome 12p13.31 that encodes a peroxin, an integral membrane protein involved in peroxisome biosynthesis and integrity, which assembles membrane vesicles before translocation of matrix proteins.
PEX5 mutations are associated with neonatal adrenoleukodystrophy (NALD) type of Zellweger syndrome and may cause infantile Refsum disease.
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