lysosomal alpha-mannosidase isoform X1 [Homo sapiens]

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White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis. [Mol Genet Metab. 2021]
White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis.
Majovska J, Nestrasil I, Paulson A, Nascene D, Jurickova K, Hlavata A, Lund T, Orchard PJ, Vaneckova M, Zeman J, et al. Mol Genet Metab. 2021 Mar; 132(3):189-197. Epub 2020 Dec 3.
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases. [Am J Med Genet A. 2019]
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
Lehalle D, Colombo R, O'Grady M, Héron B, Houcinat N, Kuentz P, Moutton S, Sorlin A, Thevenon J, Delanne J, et al. Am J Med Genet A. 2019 Sep; 179(9):1756-1763. Epub 2019 Jun 26.
Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group. [Mol Genet Metab. 2019]
Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group.
Guffon N, Tylki-Szymanska A, Borgwardt L, Lund AM, Gil-Campos M, Parini R, Hennermann JB. Mol Genet Metab. 2019 Apr; 126(4):470-474. Epub 2019 Jan 31.

RefSeq genomic sequence
See the genomic reference sequence for the MAN2B1 gene (NG_008318.1).
RefSeq mRNA
See reference mRNA sequence for the MAN2B1 gene (XM_005259913.3).
RefSeq protein isoforms
See 6 reference sequence protein isoforms for the MAN2B1 gene.

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Protein