Recombinant Human Collagen alpha-1(XI) chain (COL11A1), Truncated

Uniprot Id

P12107

Target Species

Human

Target Name

COL11A1

Target Full Name

Collagen alpha-1(XI) chain

Target Function

May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.

Target Involvement

Stickler syndrome 2 (STL2); Marshall syndrome (MRSHS); Fibrochondrogenesis 1 (FBCG1)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix.

Target Protein Families

Fibrillar collagen family

Target Tissue Specificity

Cartilage, placenta and some tumor or virally transformed cell lines. Isoforms using exon IIA or IIB are found in the cartilage while isoforms using only exon IIB are found in the tendon.

Target Research Area

Others

Target Synonyms

COBA1_HUMAN; COL11A1; COLL6; Collagen alpha 1; Collagen alpha-1(XI) chain; collagen XI alpha 1; collagen XI; alpha 1 polypeptide ; collagen; type XI; alpha 1; STL2; STL3; XI chain precursor

Target Background

This 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. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene.