Collagen, Type XI, Alpha-1

Alternative Names

  • COL11A1
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OMIM Number

120280

NCBI Gene ID

1301

Uniprot ID

P12107

Length

232406 bases

No. of Exons

71

No. of isoforms

4

Protein Name

Collagen alpha-1(XI) chain

Molecular Mass

181065Da

Amino Acid Count

1806

Genomic Location

chr1:102876467-103108872

Gene Map Locus
1p21.1

Description

COL11A1 gene encodes pro-alpha1(XI) chain, one of the alpha chains that form type XI collagen. Type XI collagen is a trimer composed of three different chains: alpha 1(XI), alpha 2(XI) and alpha 3(XI). It may be involved in fibrillogenesis and contributes to maintaining the structure of type II collagen. COL11A1 mutations are known to cause multiple disorders, including type II Stickler syndrome, Marshall syndrome and fibrochondrogenesis.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001854.3:c.2702G>ASaudi ArabiaNC_000001.11:g.102978867C>TLikely Pathogenic, Uncertain SignificanceFibrochondrogenesis 1NG_008033.1:g.134630G>A; NM_001854.3:c.2702G>A; NP_001845.3:p.Gly901Glu
NM_001854.3:c.3708+437T>GOmanNC_000001.11:g.102921081A>CUncertain SignificanceFibrochondrogenesis 1NG_008033.1:g.192416T>G; NM_001854.3:c.3708+437T>G; NP_001845.3:p.?
NM_001854.3:c.4084C>TOmanNC_000001.11:g.102912161G>APathogenicLikely PathogenicFibrochondrogenesis 1NG_008033.1:g.201336C>T; NM_001854.3:c.4084C>T; NP_001845.3:p.Arg1362Ter755987732620141
NM_001854.4:c.1945-1G>CSaudi ArabiaNC_000001.11:g.103003269C>GLikely PathogenicStickler Syndrome, Type IING_008033.2:g.110228G>C; NM_001854.4:c.1945-1G>C
NM_001854.4:c.2241+5G>TSaudi ArabiaNC_000001.11:g.102997075C>ALikely PathogenicStickler Syndrome, Type IING_008033.2:g.116422G>T; NM_001854.4:c.2241+5G>T
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