Gene: PDXDC1

Alternate names for this Gene: LP8165

Gene Summary:

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.11

Description of this Gene: pyridoxal dependent decarboxylase domain containing 1

Type of Gene: protein-coding

Gene: NTAN1

Alternate names for this Gene: PNAA|PNAD

Gene Summary: The protein encoded by this gene functions in a step-wise process of protein degradation through the N-end rule pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal L-Asn residues on proteins to produce N-terminal L-Asp. L-Asp substrates are subsequently conjugated to L-Arg, which is recognized by specific E3 ubiquitin ligases and targeted to the proteasome. Pseudogenes of this gene are located on the long arms of chromosomes 8, 10 and 12. Alternative splicing results in multiple transcript variants that encode different protein isoforms.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.11

Description of this Gene: N-terminal asparagine amidase

Type of Gene: protein-coding

rs34614532 in PDXDC1;NTAN1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs35574015 in PDXDC1;NTAN1 gene and Chronic Kidney Diseases PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

rs35574015 in PDXDC1;NTAN1 gene and Kidney Failure, Chronic PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

rs11075253 in PDXDC1;NTAN1 gene and Lipids measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs1136001 in PDXDC1;NTAN1 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs12928099 in PDXDC1;NTAN1 gene and Triglycerides measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs11376559 in PDXDC1;NTAN1 gene and Waist Circumference PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.