2. Gene
  3. SLC24A1 - solute carrier family 24 member 1 Gene

SLC24A1 - solute carrier family 24 member 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：溶质载体家族 24 成员 1

种属: Homo sapiens

同用名: NCKX; RODX; NCKX1; CSNB1D; HsT17412

基因 ID: 9187 | 基因类型: protein coding

关于 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.

功能概要

该基因编码钾依赖性钠/钙交换蛋白家族的成员。编码的蛋白质通过介导一个钙离子和一个钾离子的挤出以交换四个钠离子，在视网膜视杆细胞和视锥细胞的钠/钙交换中起重要作用。该基因的突变可能在先天性静止性夜盲症中发挥作用。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 12 月]

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 基因产物(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 蛋白结构

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (469 - 599)

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (947 - 1084)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1099 a.a.
蛋白主名 其他名称

sodium/potassium/calcium exchanger 1

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

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13084 SLC24A1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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