The COLEC11 gene (COLEC11 steth for "Collectin Subfamily Member 11") is a protein-coding gene localized to chromosome 2p25.3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
COLEC11 Gene
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General informationThis section has been translated automatically.
The COLEC11 gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play an important role in the innate immune system by binding to carbohydrate antigens on microorganisms to facilitate their recognition and removal. The encoded protein binds to polysaccharides, preferring fucose and mannose.
Mutations in this gene are a cause of 3MC syndrome
LiteratureThis section has been translated automatically.
- Al Kaissi, A et al. (2007) Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity? Am J Med Genet 143A: 349-354.
- Carnevale F et al (1989) Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. Am. J. Med. Genet. 33: 186-189, 1989.
- Guion-Almeida ML et al.(1995) Michels syndrome in a Brazilian girl born to consanguineous parents. Am J Med Genet 57: 377-379.
- Mingarelli R et al (1996) Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome). J Med Genet 33: 884-886.
- Titomanlio L et al (2005) Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? Am J Med Genet 137A: 332-335.
- Urquhart J et al (2016) Exploring the genetic basis of 3MC syndrome: findings in 12 further families. Am J Med Genet 170A: 1216-1224.