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HEXA

HEXA
Egitura erabilgarria
PDBOrtologoaren bilaketa: PDBe RCSB
Identifikatzaileak
AliasakHEXA (HUGO), TSD, hexosaminidase subunit alpha
Kanpoko IDakOMIM: 606869   MGI: 96073   HomoloGene: 20146   GeneCards: HEXA   OMA: HEXA - orthologs
EC Zenbakia3.2.1.52
Genetikoki lotutako gaixotasunak
Tay-Sachsen gaixotasun [1]
Wikidata
Ikusi/Editatu giza geneaIkusi/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 GM2 proteina aktibatzailearen kofaktoreareak GM2 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

  1. ↑ Genetikoki lotutako gaixotasunak HEXAikusi/editatu erreferentziak Wikidatan. .
  2. ↑ a b c GRCh38: Ensembl release 89: ENSG00000213614 - Ensembl, May 2017
  3. ↑ a b c 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.
  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..
  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..
  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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