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SLC24A5 gene

Known as: oculocutaneous albinism 6 (autosomal recessive), NCKX5, OCA6 
National Institutes of Health

Related topics

Related topics

2 relations
ALBINISM, OCULOCUTANEOUS, TYPE VISLC24A3 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Cellular localization of the K+‐dependent Na+–Ca2+ exchanger NCKX5 and the role of the cytoplasmic loop in its distribution in pigmented cells
NCKX5 is a bidirectional K+‐dependent Na+–Ca2+ exchanger, which belongs to the SLC24A gene family. In particular, the A111T… 
2017
2017
Two Variants in SLC24A5 Are Associated with “Tiger-Eye” Iris Pigmentation in Puerto Rican Paso Fino Horses
A unique eye color, called tiger-eye, segregates in the Puerto Rican Paso Fino (PRPF) horse breed and is characterized by a… 
2016
2016
Characterization of the Cation Binding Sites in the NCKX2 Na+/Ca2+-K+ Exchanger.
NCKX1-5 are proteins involved in K+-dependent Na+/Ca2+ exchange in various signal tissues. Here we present a homology model of… 
2015
2015
Impact of Na+/Ca2+ Exchangers on Therapy Resistance of Ovary Carcinoma Cells
Background/Aims: According to previous observations, enhanced store-operated Ca<sup>2+</sup>-entry (SOCE) accomplished by the… 
Highly Cited
2013
Highly Cited
2013
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
Oculocutaneous albinism (OCA) is a heterogeneous and autosomal recessive disorder with hypopigmentation in the eye, hair, and… 
2012
2012
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population
BackgroundOculocutaneous albinism (OCA) is caused by a group of genetically heterogeneous inherited defects that result in the… 
2011
2011
Repression of Slc24a5 can reduce pigmentation in chicken.
Slc24a5 is a putative cation transporter, which is a member of the potassium-dependent sodium-calcium ion exchanger family… 
Highly Cited
2009
Highly Cited
2009
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
PURPOSE The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in… 
Highly Cited
2008
Highly Cited
2008
SLC24A5 Encodes a trans-Golgi Network Protein with Potassium-dependent Sodium-Calcium Exchange Activity That Regulates Human Epidermal Melanogenesis*
A non-synonymous single nucleotide polymorphism in the human SLC24A5 gene is associated with natural human skin color variation… 
2008
2008
Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations
Ancestry informative markers (AIMs) are human polymorphisms that exhibit substantially allele frequency differences among… 
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