Target intelligence / Profile preview

Pyridoxal-dependent decarboxylase domain-containing protein 1 (PDXDC1)

Target
PDXDC1
Molecular classification
Enzyme, Protein
01

Overview

Pyridoxal-dependent decarboxylase domain-containing protein 1 (PDXDC1) is a protein encoded by the PDXDC1 gene in humans and is presumed to have carboxy-lyase (decarboxylase) activity based on its homology and the presence of a pyridoxal phosphate binding domain, but its precise enzymatic function has not been clearly established in the literature[1][2][4][7]. It is a member of the family of proteins containing a pyridoxal-dependent decarboxylase domain and is predicted to be involved in amino acid and carboxylic acid metabolism. Expression is observed in multiple tissues, with the protein localized to the Golgi apparatus[2][4]. Mutations in this gene are associated with certain forms of autosomal recessive and dominant nonsyndromic deafness[2]. Currently, PDXDC1 does not appear to be a well-characterized therapeutic target, and there is no evidence for direct interaction with approved drugs or its use as a biomarker for patient selection or efficacy monitoring[2][4][7].

Other names
KIAA02514.1.1.-PDXDC12210010A19Rik (mouse ortholog)
02

Biological functions

Carboxylic acid metabolic processCadherin binding activity
03

Disease associations

Hearing loss (nonsyndromic deafness, autosomal recessive and dominant forms)

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