Members of this family are integral membrane proteins that are around 500 residues in length. LMBR1 is not involved in preaxial polydactyly, as originally thought [1]. Vertebrate members of this family may play a role in limb development [2]. Lysosomal cobalamin transport escort protein LMBD1 is a lysosomal membrane chaperone required to export cobalamin from lysosome to the cytosol, allowing its conversion to cofactors [3,4]. A member of this family has been shown to be a lipocalin membrane receptor [5]. [1]. 12032320. Disruption of a long-range cis-acting regulator for Shh causes. preaxial polydactyly.. Lettice LA, Horikoshi T, Heaney SJ, van Baren MJ, van der Linde. HC, Breedveld GJ, Joosse M, Akarsu N, Oostra BA, Endo N, Shibata. M, Suzuki M, Takahashi E, Shinka T, Nakahori Y, Ayusawa D,. Nakabayashi K, Scherer SW, Heutink P, Hill RE, Noji S;. Proc Natl Acad Sci U S A 2002;99:7548-7553.. [2]. 11090342. Acheiropodia is caused by a genomic deletion in C7orf2, the. human orthologue of the Lmbr1 gene.. Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG,. Neto JC, Silveira EL, Freire-Maia A, Heutink P, Kilpatrick MW,. Tsipouras P;. Am J Hum Genet 2001;68:38-45.. [3]. 19136951. Identification of a putative lysosomal cobalamin exporter. altered in the cblF defect of vitamin B12 metabolism.. Rutsch F, Gailus S, Miousse IR, Suormala T, Sagne C, Toliat MR,. Nurnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C,. Baumgartner M, Robenek H, Marquardt T, Hohne W, Gasnier B,. Rosenblatt DS, Fowler B, Nurnberg P;. Nat Genet. 2009;41:234-239.. [4]. 25535791. Purification and interaction analyses of two human lysosoma. TRUNCATED at 1650 bytes (from Pfam)
- Date:
- 2024-04-03