NP_001287960.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
117,632 Da
NCBI Official Full Name
sodium/potassium/calcium exchanger 1 isoform 3
NCBI Official Synonym Full Names
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
NCBI Official Synonym Symbols
NCKX; RODX; NCKX1; CSNB1D; HsT17412 [Similar Products]
NCBI Protein Information
sodium/potassium/calcium exchanger 1; retinal rod Na+/Ca+/K+ exchanger; solute carrier family 24 member 1; Na(+)/K(+)/Ca(2+)-exchange protein 1
UniProt Protein Name
Sodium/potassium/calcium exchanger 1
UniProt Synonym Protein Names
Na(+)/K(+)/Ca(2+)-exchange protein 1; Retinal rod Na-Ca+K exchanger; Solute carrier family 24 member 1
UniProt Synonym Gene Names
UniProt Entry Name
NCKX1_HUMAN
NCBI Summary for SLC24A1
This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
UniProt Comments for SLC24A1
SLC24A1: Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). Defects in SLC24A1 are the cause of congenital stationary night blindness type 1D (CSNB1D). An autosomal recessive form of congenital stationary night blindness a non- progressive retinal disorder characterized by impaired night vision. CSNB1D is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus. Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Transporter; Membrane protein, multi-pass; Transporter, SLC family
Chromosomal Location of Human Ortholog: 15q22
Cellular Component: membrane; outer membrane; integral to plasma membrane; plasma membrane
Molecular Function: protein binding; calcium, potassium:sodium antiporter activity; symporter activity
Biological Process: rhodopsin mediated signaling; phototransduction, visible light; visual perception; transport; calcium ion transport; response to light intensity; ion transport; transmembrane transport
Disease: Night Blindness, Congenital Stationary, Type 1d
Research Articles on SLC24A1
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Pathways associated with anti-SLC24A1 antibody
Organs/Tissues associated with anti-SLC24A1 antibody
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