막단백질 MLC1은 사람 에게서 MLC1 유전자에 [5] [6] 단백질 이다.
MLC1 (WKL1 [7] [8] 대뇌하낭종 (MLC)[9] 유일한 인간 유전자 이다.MLC에 대한 적어도 하나의 다른 유전자에 대한 증거는 존재하지만, 매핑되거나 식별되지 않았다.
기능. 이 유전자 생성물의 기능은 알려지지 않았지만, 다른 단백질에 대한 호몰로지는 이것이 통합 된 막 수송 [7] 이 유전자의 돌연변이는 상염색체 열성 신경 [9] 피질하낭종 을 가진 거뇌성 백혈병증 과 관련이 있다.
MLC1 단백질은 6개의 추정막 통과 도메인(S1~S6)과 S5~S6 사이의 모공 영역(P)을 포함한다. 또한 MLC1은 KCNA1 셰이커 관련 전압 개폐 칼륨 채널v (K1.1)과 상동성이 가장 높다. 이 분석에 따르면 MLC1은 양이온 [7]
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000100427 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000035805 - 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 .^ Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S (1994). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1" . DNA Res . 1 (1): 27–35. doi :10.1093/dnares/1.1.27 PMID 7584026 . ^ Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS (April 2001). "Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts" . Am. J. Hum. Genet . 68 (4): 831–8. doi :10.1086/319519 . PMC 1275636 PMID 11254442 . ^ a b c Meyer J, Huberth A, Ortega G, Syagailo YV, Jatzke S, Mössner R, Strom TM, Ulzheimer-Teuber I, Stöber G, Schmitt A, Lesch KP (May 2001). "A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree" . Mol. Psychiatry . 6 (3): 302–6. doi :10.1038/sj.mp.4000869 PMID 11326298 . ^ McQuillin A, Kalsi G, Moorey H, Lamb G, Mayet S, Quested D, Baker P, Curtis D, Gurling HM (August 2002). "A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia" . Eur. J. Hum. Genet . 10 (8): 491–4. doi :10.1038/sj.ejhg.5200837 PMID 12111645 . ^ a b "Entrez Gene: MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1" .
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