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MBL2 mannose binding lectin 2

Also known as: MBL; MBP; MBP1; MBPD; MBL2D; MBP-C; COLEC1; HSMBPC

Summary

This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Mannose-binding protein deficiency
MedGen: C1835140OMIM: 614372GeneReviews: Not available
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Genomic context

Location:
10q21.1
Sequence:
Chromosome: 10; NC_000010.11 (52764977..52772845, complement)
Total number of exons:
5

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