CYP4A22

Basic Info

Synonyms

CYP4A22, CYPIVA22, Cytochrome P450 4A22

+ [5]

Introduction

Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate and palmitate. Shows no activity towards arachidonic acid and prostaglandin A1. Lacks functional activity in the kidney and does not contribute to renal 20-hydroxyeicosatetraenoic acid (20-HETE) biosynthesis.

AbstractDuan X, et al, report that CYP4A22 loss-of-function causes a new form of vitamin D-dependent rickets. Here we describe the basis for our rejection of their proposal and provide evidence that the CYP4A22 variant that they have identified (c.901del, p.Glu301Argfs*80 (NM_001010969.4)), is a common allelic variant that is particularly prevalent in the East Asian population that includes the patients that they studied. Finally, we submit that the two patients are more likely to have X-linked Hypophosphatemic rickets than vitamin D dependent rickets.

29 Nov 2024·Journal of Bone and Mineral Research

Expression of Concern: CYP4A22 loss-of-function causes a new type of vitamin D–dependent rickets (VDDR1C)

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