Collagen alpha-1(XI) chain is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''COL11A1''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
The COL11A1 gene encodes one of the two alpha chains of type XI
collagen
Collagen () is the main structural protein in the extracellular matrix found in the body's various connective tissues. As the main component of connective tissue, it is the most abundant protein in mammals, making up from 25% to 35% of the whole ...
, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Three transcript variants encoding different isoforms have been identified for this gene.
Clinical significance
Mutations in this gene are associated with type II
Stickler syndrome
Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of rare genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome i ...
and with
Marshall syndrome
Marshall syndrome is a genetic disorder of the connective tissue which can cause hearing loss. The three most common areas to be affected are the eyes which are uncommonly large, joints and the mouth and facial structures. Marshall syndrome and S ...
.
Stickler syndrome, type II is an autosomal dominant condition caused by a mutation in the
COL11A1
Collagen alpha-1(XI) chain is a protein that in humans is encoded by the ''COL11A1'' gene.
Function
The COL11A1 gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but t ...
gene. Features of Stickler syndrome type II include: sensorineural hearing loss, facial features (flat facial profile, anteverted nares, micrognathia), cleft palate, visual disturbances (type 2 vitreous anomaly, childhood-onset myopia, glaucoma, cataracts and retinal detachment), spondyloepiphyseal dysplasia, and arthropathy.
References
External links
GeneReviews/NCBI/NIH/UW entry on Stickler Syndrome
Further reading
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{{Fibrous proteins