Gene: NIPAL1

Alternate names for this Gene: NPAL1|SLC57A3

Gene Summary:

Gene is located in Chromosome: 4

Location in Chromosome : 4p12

Description of this Gene: NIPA like domain containing 1

Type of Gene: protein-coding

Gene: CNGA1

Alternate names for this Gene: CNCG|CNCG1|CNG-1|CNG1|RCNC1|RCNCa|RCNCalpha|RP49

Gene Summary: The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Multiple transcript variants have been found for this gene.

Gene is located in Chromosome: 4

Location in Chromosome : 4p12

Description of this Gene: cyclic nucleotide gated channel subunit alpha 1

Type of Gene: protein-coding

rs98270 in NIPAL1;CNGA1 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.