RecName: Full=Alpha-mannosidase 2C1; AltName: Full=Alpha mannosidase 6 - Protein

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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder. [Am J Hum Genet. 2022]
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Maia N, Potelle S, Yildirim H, Duvet S, Akula SK, Schulz C, Wiame E, Gheldof A, O'Kane K, Lai A, et al. Am J Hum Genet. 2022 Feb 3; 109(2):345-360. Epub 2022 Jan 18.
Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence. [PLoS One. 2016]
Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence.
Cáceres A, Esko T, Pappa I, Gutiérrez A, Lopez-Espinosa MJ, Llop S, Bustamante M, Tiemeier H, Metspalu A, Joshi PK, et al. PLoS One. 2016; 11(6):e0157739. Epub 2016 Jun 29.
Dual functions for cytosolic α-mannosidase (Man2C1): its down-regulation causes mitochondria-dependent apoptosis independently of its α-mannosidase activity. [J Biol Chem. 2013]
Dual functions for cytosolic α-mannosidase (Man2C1): its down-regulation causes mitochondria-dependent apoptosis independently of its α-mannosidase activity.
Wang L, Suzuki T. J Biol Chem. 2013 Apr 26; 288(17):11887-96. Epub 2013 Mar 13.

RefSeq protein isoforms
See 4 reference sequence protein isoforms for the MAN2C1 gene.

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Q9NTJ4 [Domain Mapping of Disease Mut...]
Q9NTJ4
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
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