SLC24A1 - solute carrier family 24 member 1 Gene

Homo sapiens

Also known as NCKX; RODX; NCKX1; CSNB1D; HsT17412

Gene ID: 9187 | Gene type: protein coding

About SLC24A1

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:65,611,350-65,661,002 (from NCBI)

This gene has 12 transcripts (splice variants), 274 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 3.0), testis (RPKM 2.7) and 25 other tissues.

Summary

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]

SLC24A1 Products(6)

mRNA	Protein	Name
NM_001254740.2	NP_001241669.1	sodium/potassium/calcium exchanger 1 isoform 2
NM_001301031.1	NP_001287960.1	sodium/potassium/calcium exchanger 1 isoform 3
NM_001301032.1	NP_001287961.1	sodium/potassium/calcium exchanger 1 isoform 4
NM_001301033.2	NP_001287962.1	sodium/potassium/calcium exchanger 1 isoform 5
NM_001411142.1	NP_001398071.1	sodium/potassium/calcium exchanger 1 isoform 6
NM_004727.3	NP_004718.1	sodium/potassium/calcium exchanger 1 isoform 1

SLC24A1 Protein Structure

Na_Ca_ex

0
200
400
600
800
1000
1099 a.a.

Protein Preferred Names

Protein Names

sodium/potassium/calcium exchanger 1

Na(+)/K(+)/Ca(2+)-exchange protein 1

Related Diseases

Diseases

Alias

Night Blindness, Congenital Stationary, Type 1d

Congenital Stationary Night Blindness 1d	CSNB1D
Csnb, Complete, Autosomal Recessive	Night Blindness, Congenital Stationary , 1d, Autosomal Recessive
Congenital Stationary Night Blindness 1d Autosomal Recessive	Night Blindness, Congenital Stationary, 1d
Complete Autosomal Recessive Csnb	Blindness, Night, Stationary, Congenital, Type 1d

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Night Blindness

Nyctalopia

Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Amelogenesis Imperfecta Hypomaturation Type 2a5	AI2A5
Amelogenesis Imperfecta, Type Iia5	Amelogenesis Imperfecta Hypomaturation Type Iia5
Amelogenesis Imperfecta Type Iia5	Amelogenesis Imperfecta, Hypomaturation Type, 2a5

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Leber Congenital Amaurosis 1

LCA1	Amaurosis Congenita Of Leber I
Lca	Retinal Blindness, Congenital
Crb	Leber Congenital Amaurosis Type I
Leber Congenital Amaurosis, Type 1	Amaurosis Congenita Of Leber, Type 1

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13084	SLC24A1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SLC24A1	VGNC	VGNC:80844
Rattus norvegicus	SLC24A1	RGD	RGD:620080
Canis familiaris	SLC24A1	VGNC	VGNC:46285
Mus musculus	SLC24A1	MGD	MGI:2384871
Macaca mulatta	SLC24A1	VGNC	VGNC:77424
Bos taurus	SLC24A1	VGNC	VGNC:34736

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