인지질수송 ATP효소 V형 10A 또는 아미노인산지질전달효소 VA 는 ATP10A [5] [6] [7] 효소 이다.
기능. ATP10A 에 의해 코드된 단백질은 P형 양이온 운반 ATPase 계열과 아미노포스피드 운반 ATPase 하위 계열에 속합니다.아미노포스폴리피드 전이효소는 포스파티딜세린 과 포스파티딜타놀라민 을 이중층 한 쪽에서 다른 쪽으로 운반합니다. 이 유전자는 모성 발현이다. 그것은 '행복한 꼭두각시 증후군'[8] 엔젤만 증후군을 일으키는 가장 흔한 삭제 간격 내에 매핑된다.
「 」를 참조해 주세요. 레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000206190 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000025324 - 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 .^ Halleck MS, Lawler JF JR, Blackshaw S, Gao L, Nagarajan P, Hacker C, Pyle S, Newman JT, Nakanishi Y, Ando H, Weinstock D, Williamson P, Schlegel RA (Oct 2000). "Differential expression of putative transbilayer amphipath transporters". Physiol Genomics . 1 (3): 139–50. doi :10.1152/physiolgenomics.1999.1.3.139 . PMID 11015572 . S2CID 762447 . ^ Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Aug 1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro" . DNA Res . 5 (1): 31–9. doi :10.1093/dnares/5.1.31 PMID 9628581 . ^ "ATP10A - Phospholipid-transporting ATPase VA - Homo sapiens (Human) - ATP10A gene & protein" . www.uniprot.org . Retrieved 9 April 2022 .^ "Entrez Gene: ATP10A ATPase, Class V, type 10A" . 외부 링크 추가 정보 Kato C, Tochigi M, Ohashi J, et al. (2008). "Association study of the 15q11-q13 maternal expression domain in Japanese autistic patients". American Journal of Medical Genetics . 147B (7): 1008–12. doi :10.1002/ajmg.b.30690 . PMID 18186074 . S2CID 25223093 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proceedings of the National Academy of Sciences of the United States of America . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Dhar M, Hauser L, Johnson D (2003). "An aminophospholipid translocase associated with body fat and type 2 diabetes phenotypes". Obes. Res . 10 (7): 695–702. doi :10.1038/oby.2002.94 . PMID 12105293 . Herzing LB, Kim SJ, Cook EH, Ledbetter DH (2001). "The Human Aminophospholipid-Transporting ATPase Gene ATP10C Maps Adjacent to UBE3A and Exhibits Similar Imprinted Expression" . Am. J. Hum. Genet . 68 (6): 1501–5. doi :10.1086/320616 . PMC 1226137 PMID 11353404 . Meguro M, Kashiwagi A, Mitsuya K, et al. (2001). "A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome". Nat. Genet . 28 (1): 19–20. doi :10.1038/88209 . PMID 11326269 . Gillessen-Kaesbach G, Demuth S, Thiele H, et al. (1999). "A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect" . European Journal of Human Genetics . 7 (6): 638–44. doi :10.1038/sj.ejhg.5200362 PMID 10482951 .
