HEXA

HEXA
Egitura erabilgarria
PDB	Ortologoaren bilaketa: PDBe RCSB
PDB ID kodeen zerrenda
	2GJX, 2GK1
Identifikatzaileak
Aliasak	HEXA (HUGO), TSD, hexosaminidase subunit alpha
Kanpoko IDak	OMIM: 606869 MGI: 96073 HomoloGene: 20146 GeneCards: HEXA OMA: HEXA - orthologs
Genetikoki lotutako gaixotasunak
	Tay-Sachsen gaixotasun
Genearen kokapena (gizakia)
	Kromosoma: 15 (gizakia)
Amaiera	72.376.420 bp
Genearen kokapena (sagua)
	Kromosoma: 9 (sagua)
Amaiera	59.472.392 bp
RNA adierazpen eredua
	Adierazpen ohikoena
	beta zelula ; ; Behazun xixku; ; stromal cell of endometrium ; ; right adrenal cortex ; ; left lobe of thyroid gland ; ; right coronary artery ; ; granulozito; ; right lobe of thyroid gland ; ; left adrenal gland ; ; tendon of biceps brachii ;
	Adierazpen ohikoena
	stroma of bone marrow ; ; Kalota; ; Dezidua; ; body of femur ; ; vestibular membrane of cochlear duct ; ; mesenteric lymph nodes ; ; Iris; ; Balbula aortiko; ; crypt of lieberkuhn of small intestine ; ; ascending aorta ;
	Erreferentziazko adierazpen datu gehiago
Gene ontologia
Funtzio molekularra	acetylglucosaminyltransferase activity ; protein heterodimerization activity ; hydrolase activity, hydrolyzing O-glycosyl compounds ; hydrolase activity ; hydrolase activity, acting on glycosyl bonds ; beta-N-acetylhexosaminidase activity ; N-acetyl-beta-D-galactosaminidase activity ; proteina lotura ;
Zelularen osagaia	extracellular exosome ; mintza ; Lisosoma ; lysosomal lumen ; azurophil granule ;
Prozesu biologikoa	hyaluronan catabolic process ; glycosaminoglycan biosynthetic process ; metabolismo ; glycosphingolipid metabolic process ; chondroitin sulfate catabolic process ; keratan sulfate catabolic process ; karbohidratoen metabolismo ;
	Iturburuak: : Amigo / QuickGO
Ortologoak
	3073
	15211
	ENSG00000213614
	ENSMUSG00000025232
	P06865
	P29416
	NM_000520; NM_001318825
	NM_010421
	NP_000511; NP_001305754
	NP_034551
	Wikidata
Ikusi/Editatu giza genea	Ikusi/Editatu saguaren genea

Hexosaminidasa A (alfa polipeptidoa), HEXA bezala ere ezaguna, gizakietan HEXA geneak kodetzen duen entzima da, 15. kromosoman dagoena.^[6]^[7]

A hexosaminidasak eta G_M2 proteina aktibatzailearen kofaktoreareak G_M2 gangliosidoen eta N-azetil hexosamina terminalak dituzten beste molekula batzuen degradazioa katalizatzen dute.^[8] A hexosaminidasa, alfa azpiunitate batez (proteina hau) eta beta azpiunitate batez osatutako heterodimero bat da. Alfa azpiunitatea HEXA geneak kodetzen du, beta azpiunitatea HEXB geneak kodetzen duen bitartean. Beta azpiunitatea kodetzen duen genearen mutazioek (HEXB) Sandhoffen gaixotasuna eragiten dute; aldiz, alfa azpiunitatea kodetzen duen genearen mutazioek (HEXA, gene hau) GM2 gangliosidoen hidrolisia gutxitzen dute, eta hori da Tay-Sachsen gaixotasunaren eragile nagusia.^[9]

Erreferentziak

↑ Genetikoki lotutako gaixotasunak HEXAikusi/editatu erreferentziak Wikidatan. .
↑ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000213614 - Ensembl, May 2017
↑ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025232 – Ensembl, May 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.
↑ Korneluk RG, Mahuran DJ, Neote K, Klavins MH, O'Dowd BF, Tropak M, Willard HF, Anderson MJ, Lowden JA, Gravel RA. (1986ko ekaina). «Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease» The Journal of Biological Chemistry 261 (18): 8407–13. doi:10.1016/S0021-9258(19)83927-3. PMID 3013851..
↑ Proia RL, Soravia E. (1987ko apirila). «Organization of the gene encoding the human beta-hexosaminidase alpha-chain» The Journal of Biological Chemistry 262 (12): 5677–81. doi:10.1016/S0021-9258(18)45628-1. PMID 2952641..
↑ Knapp S, Vocadlo D, Gao Z, Kirk B, Lou J, Withers SG. (1996). «NAG-thiazoline, an N-acetylbeta-hexosaminidase inhibitor that implicates acetamido participation» J. Am. Chem. Soc. 118 (28): 6804–6805. doi:10.1021/ja960826u..
↑ Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN. (2003ko apirila). «Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease» Journal of Molecular Biology 327 (5): 1093–109. doi:10.1016/S0022-2836(03)00216-X. PMID 12662933..

Kanpo estekak

Datuak: Q18026873
Multimedia: HEXA / Q18026873

[1] Genetikoki lotutako gaixotasunak HEXAikusi/editatu erreferentziak Wikidatan. .

[refGRCh38Ensembl-2] GRCh38: Ensembl release 89: ENSG00000213614 - Ensembl, May 2017

[refGRCm38Ensembl-3] GRCm38: Ensembl release 89: ENSMUSG00000025232 – Ensembl, May 2017

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

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

[pmid3013851-6] Korneluk RG, Mahuran DJ, Neote K, Klavins MH, O'Dowd BF, Tropak M, Willard HF, Anderson MJ, Lowden JA, Gravel RA. (1986ko ekaina). «Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease» The Journal of Biological Chemistry 261 (18): 8407–13. doi:10.1016/S0021-9258(19)83927-3. PMID 3013851..

[pmid2952641-7] Proia RL, Soravia E. (1987ko apirila). «Organization of the gene encoding the human beta-hexosaminidase alpha-chain» The Journal of Biological Chemistry 262 (12): 5677–81. doi:10.1016/S0021-9258(18)45628-1. PMID 2952641..

[8] Knapp S, Vocadlo D, Gao Z, Kirk B, Lou J, Withers SG. (1996). «NAG-thiazoline, an N-acetylbeta-hexosaminidase inhibitor that implicates acetamido participation» J. Am. Chem. Soc. 118 (28): 6804–6805. doi:10.1021/ja960826u..

[pmid12662933-9] Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN. (2003ko apirila). «Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease» Journal of Molecular Biology 327 (5): 1093–109. doi:10.1016/S0022-2836(03)00216-X. PMID 12662933..

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