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Oxidoreductase-like domain-containing protein 1 (OXLD1)
- Target
- OXLD1
- Molecular classification
- Other (contains oxidoreductase-like domain, but not demonstrated enzyme activity)
01
Overview
Oxidoreductase-like domain-containing protein 1 (OXLD1) is a human protein encoded by the OXLD1 gene (HGNC:27901, NCBI:339229), which is localized in the mitochondria[5][3]. The protein contains a domain homologous to oxidoreductases, a family of enzymes involved in redox (oxidation-reduction) reactions, but its direct enzymatic activity and physiological function in humans remain uncharacterized[5][9][7]. OXLD1 is expressed in several tissues, and current evidence does not establish it as a validated therapeutic target, receptor, enzyme, transporter, or member of a major targetable protein family[5][6]. While there are broad associations reported between OXLD1 and certain disorders (such as mixed receptive-expressive language disorder and Baraitser-Winter syndrome 2), no drugs are currently known to specifically target this protein, and its mechanistic role or use as a biomarker is undetermined[5][10].
- Other names
- C17orf90MGC1047121810049H13RikCLONE CDABP0028
02
Biological functions
Other (exact function unknown; predicted to be mitochondrial)
03
Disease associations
Other (associations reported with mixed receptive-expressive language disorder and Baraitser-Winter syndrome 2, but causal/mechanistic roles not defined)
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