Collagen, type XI, alpha 1

From Wikipedia, the free encyclopedia
  (Redirected from COL11A1)
Jump to: navigation, search
COL11A1
Identifiers
Aliases COL11A1, collagen, type XI, alpha 1, CO11A1, COLL6, STL2, collagen type XI alpha 1, collagen type XI alpha 1 chain
External IDs MGI: 88446 HomoloGene: 56389 GeneCards: COL11A1
Genetically Related Diseases
primary open angle glaucoma[1]
RNA expression pattern
PBB GE COL11A1 37892 at fs.png

PBB GE COL11A1 204320 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001190709
NM_001854
NM_080629
NM_080630

NM_007729

RefSeq (protein)

NP_001177638
NP_001845
NP_542196
NP_542197

NP_031755.2
NP_031755

Location (UCSC) Chr 1: 102.88 – 103.11 Mb Chr 3: 114.03 – 114.22 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.[4][5]

Function[edit]

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 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.[5]

Clinical significance[edit]

Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome.[5]

Stickler syndrome, type II is an autosomal dominant condition caused by a mutation in the COL11A1 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[edit]

  1. ^ "Diseases that are genetically associated with COL11A1 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ Bernard M, Yoshioka H, Rodriguez E, Van der Rest M, Kimura T, Ninomiya Y, Olsen BR, Ramirez F (Dec 1988). "Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue". J Biol Chem. 263 (32): 17159–66. PMID 3182841. 
  5. ^ a b c "Entrez Gene: COL11A1 collagen, type XI, alpha 1". 

External links[edit]

Further reading[edit]