ATP1A2
ATP1A2
ATPase, Na+/K+ 운송, 알파 2 (+) 폴리펩타이드(ATP1A2라고도 함)는 인간에서 ATP1A2 유전자에 의해 인코딩되는 단백질이다.[5]
함수
이 유전자에 의해 인코딩된 단백질은 P형 양이온 수송 ATPAS 계열과 Na+/K-ATPASS+ 하위 계열에 속한다.Na+/K-ATPase는+ 혈장 막 전체에 걸쳐 Na와 K 이온의 전기화학 그라데이션의 확립과 유지를 담당하는 일체형 막 단백질이다.이러한 구배는 삼모세포화, 다양한 유기 분자와 무기 분자의 나트륨 결합 수송, 신경과 근육의 전기적 흥분성을 위해 필수적이다.이 효소는 큰 촉매 서브 유닛(알파)과 작은 당단백질 서브 유닛(베타)인 두 개의 서브유닛으로 구성되어 있다.Na+/K-ATPase의+ 촉매 서브유닛은 다중 유전자에 의해 암호화된다.이 유전자는 알파 2 서브유닛을 인코딩한다.[5]
임상적 유의성
ATP1A2의 돌연변이는 자가 우성인 방식으로 반신성 편두통과 간질을 유발하는 것으로 밝혀졌으며, 때로는 가족 간에 동반적으로 발생하기도 한다.[6]게다가, 그것은 유년기의 교배 혈족증이라고 불리는 특이한 형태의 편두통과 연관되어 있다.[7][8][9]
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG000018625 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG00000007097 - 앙상블, 2017년 5월
- ^ "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.
- ^ a b "Entrez Gene: ATP1A2 ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide".
- ^ Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA (February 2020). "The expanding spectrum of movement disorders in genetic epilepsies" (PDF). Developmental Medicine and Child Neurology. 62 (2): 178–191. doi:10.1111/dmcn.14407. PMID 31784983. S2CID 208498567.
- ^ Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S (December 2003). "Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait". Developmental Medicine and Child Neurology. 45 (12): 833–6. doi:10.1017/S0012162203001543. PMID 14667076.[데드링크]
- ^ Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, et al. (June 2004). "Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation". Annals of Neurology. 55 (6): 884–7. doi:10.1002/ana.20134. PMID 15174025. S2CID 13430399.
- ^ Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, et al. (August 2004). "A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood". Journal of Medical Genetics. 41 (8): 621–8. doi:10.1136/jmg.2003.017863. PMC 1735877. PMID 15286158.
추가 읽기
- Lingrel JB, Orlowski J, Shull MM, Price EM (1990). Molecular genetics of Na,K-ATPase. Prog. Nucleic Acid Res. Mol. Biol. Progress in Nucleic Acid Research and Molecular Biology. Vol. 38. pp. 37–89. doi:10.1016/S0079-6603(08)60708-4. ISBN 9780125400381. PMID 2158121.
- Dunbar LA, Caplan MJ (August 2001). "Ion pumps in polarized cells: sorting and regulation of the Na+, K+- and H+, K+-ATPases". The Journal of Biological Chemistry. 276 (32): 29617–20. doi:10.1074/jbc.R100023200. PMID 11404365.
- Shull MM, Pugh DG, Lingrel JB (October 1989). "Characterization of the human Na,K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms". The Journal of Biological Chemistry. 264 (29): 17532–43. doi:10.1016/S0021-9258(18)71525-1. PMID 2477373.
- Sverdlov ED, Bessarab DA, Malyshev IV, Petrukhin KE, Monastyrskaya GS, Broude NE, Modyanov NN (February 1989). "Family of human Na+,K+-ATPase genes. Structure of the putative regulatory region of the alpha+-gene". FEBS Letters. 244 (2): 481–3. doi:10.1016/0014-5793(89)80588-5. PMID 2537767. S2CID 85369528.
- Yang-Feng TL, Schneider JW, Lindgren V, Shull MM, Benz EJ, Lingrel JB, Francke U (February 1988). "Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes". Genomics. 2 (2): 128–38. doi:10.1016/0888-7543(88)90094-8. PMID 2842249.
- Shull MM, Lingrel JB (June 1987). "Multiple genes encode the human Na+,K+-ATPase catalytic subunit". Proceedings of the National Academy of Sciences of the United States of America. 84 (12): 4039–43. Bibcode:1987PNAS...84.4039S. doi:10.1073/pnas.84.12.4039. PMC 305017. PMID 3035563.
- Sverdlov ED, Monastyrskaya GS, Broude NE, Allikmets RL, Melkov AM, Malyshev IV, et al. (June 1987). "The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit". FEBS Letters. 217 (2): 275–8. doi:10.1016/0014-5793(87)80677-4. PMID 3036582.
- Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Zahler R, Gilmore-Hebert M, Baldwin JC, Franco K, Benz EJ (July 1993). "Expression of alpha isoforms of the Na,K-ATPase in human heart". Biochimica et Biophysica Acta (BBA) - Biomembranes. 1149 (2): 189–94. doi:10.1016/0005-2736(93)90200-J. PMID 8391840.
- Stengelin MK, Hoffman JF (May 1997). "Na,K-ATPase subunit isoforms in human reticulocytes: evidence from reverse transcription-PCR for the presence of alpha1, alpha3, beta2, beta3, and gamma". Proceedings of the National Academy of Sciences of the United States of America. 94 (11): 5943–8. Bibcode:1997PNAS...94.5943S. doi:10.1073/pnas.94.11.5943. PMC 20886. PMID 9159180.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Ducros A, Joutel A, Vahedi K, Cecillon M, Ferreira A, Bernard E, et al. (December 1997). "Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity". Annals of Neurology. 42 (6): 885–90. doi:10.1002/ana.410420610. PMID 9403481. S2CID 20915050.
- Terwindt GM, Ophoff RA, Lindhout D, Haan J, Halley DJ, Sandkuijl LA, et al. (August 1997). "Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome". Epilepsia. 38 (8): 915–21. doi:10.1111/j.1528-1157.1997.tb01257.x. PMID 9579893.
- Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, et al. (October 1998). "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 5 (5): 277–86. doi:10.1093/dnares/5.5.277. PMID 9872452.
- Katzmarzyk PT, Rankinen T, Pérusse L, Dériaz O, Tremblay A, Borecki I, et al. (June 1999). "Linkage and association of the sodium potassium-adenosine triphosphatase alpha2 and beta1 genes with respiratory quotient and resting metabolic rate in the Québec Family Study". The Journal of Clinical Endocrinology and Metabolism. 84 (6): 2093–7. doi:10.1210/jc.84.6.2093. PMID 10372716.
- Rankinen T, Pérusse L, Borecki I, Chagnon YC, Gagnon J, Leon AS, et al. (January 2000). "The Na(+)-K(+)-ATPase alpha2 gene and trainability of cardiorespiratory endurance: the HERITAGE family study". Journal of Applied Physiology. 88 (1): 346–51. doi:10.1152/jappl.2000.88.1.346. PMID 10642400.
- Ukkola O, Joanisse DR, Tremblay A, Bouchard C (May 2003). "Na+-K+-ATPase alpha 2-gene and skeletal muscle characteristics in response to long-term overfeeding". Journal of Applied Physiology. 94 (5): 1870–4. CiteSeerX 10.1.1.546.5874. doi:10.1152/japplphysiol.00942.2002. PMID 12496141.
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외부 링크
- 가족 혈중 편두통의 GeneReviews/NCBI/NIH/UW 항목
- UCSC 게놈 브라우저의 인간 ATP1A2 게놈 위치 및 ATP1A2 유전자 세부 정보 페이지.
