1. Gene
  2. SLC8B1 - solute carrier family 8 member B1 Gene

SLC8B1 - solute carrier family 8 member B1 Gene

中文名称:溶质载体家族 8 成员 B1

种属: Homo sapiens

同用名: NCLX; NCKX6; SLC24A6

基因 ID: 80024 | 基因类型: protein coding

关于 SLC8B1

Cytogenetic location: 12q24.13 Genomic coordinates (GRCh38): 12:113,298,771-113,335,109 (from NCBI)

This gene has 17 transcripts (splice variants) and 207 orthologues. Ubiquitous expression in ovary (RPKM 24.7), adrenal (RPKM 19.7) and 25 other tissues.

功能概要

SLC24A6 属于钾依赖性钠/钙交换剂家族,通过 4 个钠离子对 1 个钙离子和 1 个钾离子的电生反转运来维持细胞钙稳态 (Cai 和 Lytton,2004 [PubMed 14625281]) 。[OMIM 提供, 2008 年 3 月]

SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008]

SLC8B1 基因产物(3)

mRNA Protein Name
NM_001330466.2 NP_001317395.1 mitochondrial sodium/calcium exchanger protein isoform 2 precursor
NM_001358345.2 NP_001345274.1 mitochondrial sodium/calcium exchanger protein isoform 1 precursor
NM_024959.4 NP_079235.2 mitochondrial sodium/calcium exchanger protein isoform 1 precursor

SLC8B1 蛋白结构

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (113 - 243)

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (431 - 570)

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  • 584 a.a.
蛋白主名 其他名称

mitochondrial sodium/calcium exchanger protein

Na(+)/K(+)/Ca(2+)-exchange protein 6

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

Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus SLC8B1 VGNC VGNC:34938
Felis catus SLC8B1 VGNC VGNC:65431
Rattus norvegicus SLC8B1 RGD RGD:1565818
Mus musculus SLC8B1 MGD MGI:2180781
Macaca mulatta SLC8B1 VGNC VGNC:100106
Canis familiaris SLC8B1 VGNC VGNC:46483