Kx sistem antigena

Pretraga za
Strukture	Swiss-model
Domene	InterPro

XK (protein)
XK (protein)
Identifikatori
Simbol	XK
Alt. simboli	XKR1, Kx, X1k
NCBI gen	7504
HGNC	12811
OMIM	314850
PDB	BAE48708
RefSeq	NM_021083
UniProt	P51811
Ostali podaci
Lokus	Hrom. X p21.2-p21.1
Strukture
Pretraga za
Strukture	Swiss-model
Domene	InterPro

Kx sistem antigena
Identifikatori
Aliasi	XK
Vanjski ID-jevi	OMIM: 314850 MGI: 103569 HomoloGene: 36393 GeneCards: XK
Lokacija gena (čovjek)
Hrom.	Hromosom X
Kraj	37,732,130 bp
Lokacija gena (miš)
Hrom.	Hromosom X (miš)
Kraj	9,179,489 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • transporter activity;
Ćelijska komponenta	• integral component of membrane; • ćelijska membrana; • membrana;
Biološki proces	• regulation of cell size; • myelination; • regulation of axon diameter; • cellular magnesium ion homeostasis; • cellular calcium ion homeostasis; • skeletal muscle fiber development; • amino acid transport;
	Izvori:Amigo / QuickGO
Ortolozi
	7504
	22439
	ENSG00000047597
	ENSMUSG00000015342
	P51811
	Q9QXY7
	NM_021083
	NM_023500
	NP_066569
	NP_075989
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Kx sistem antigena ili XK ili XK krvna grupa (Prekursor Kell krvne grupe ili Prekursor Kell antigena) je eritrocitni protein koji je nađen i u drugim tkivima koja su odgovorna za produkciju Kx antigena. Ova supstanca određuje individualnu pripadnost krvnoj grupi ovog sistema. Alternativni simboli su: XKR1, Kx, X1k. Genski lokus koji kontrolira ovaj fenotipski sistem je na kratkom kraku X hrpmosoma, pozicija: p21.1.

Klinički značaj

'Kx antigen imaju ulogu u izboru (uparivanju) odgovarajućed donora za transfuzije krvi. Mutacija XK proteina može voditi ka McLeodovom sindromu,^[5]^[6] multisistemskom poremećaju koji je obilježen hemolitskom anemijom, miopatijom, acanthocytosisom]] i horeom.^[7] XK je lociran na is located on the hromosomu X, a odsustvo XK proteina je spolno –X-vezana bolest^[8]

Funkcija

XK je membranski transportni protein nepoznate aktivnosti.^[9]

Također pogledajte

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000047597 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000015342 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Arnaud L., Salachas F., Lucien N, et al. (2009): Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome. Transfusion, 49 (3): 479–484.
^ [1]
^ Malandrini A. et al. (1994): Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family. Journal of the neurological sciences, 124 (1): 89–94.
^ Ho M. F. et al. (1992): Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21. American Journal of Human Genetics, 50 (2): 317–330.
^ Jung H. H. et al. (2001): Kell and XK immunohistochemistry in McLeod myopathy. Muscle & nerve, 24 (10): 1346–1351 .

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000047597 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000015342 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Arnaud L., Salachas F., Lucien N, et al. (2009): Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome. Transfusion, 49 (3): 479–484.

[6] [1]

[7] Malandrini A. et al. (1994): Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family. Journal of the neurological sciences, 124 (1): 89–94.

[8] Ho M. F. et al. (1992): Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21. American Journal of Human Genetics, 50 (2): 317–330.

[9] Jung H. H. et al. (2001): Kell and XK immunohistochemistry in McLeod myopathy. Muscle & nerve, 24 (10): 1346–1351 .

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]