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: LOC101927157

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs527236058 in NIPAL1;LOC101927157;CNGA1 gene and RETINITIS PIGMENTOSA 49 PMID 7479749 1995 Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

PMID 25268133 2014 Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.