full name
collagen type XI alpha 1 chain

synonyms
CO11A1, COLL6, STL2, COL11A1, ENSG00000060718

HGNC
HGNC:2186

Entrez Gene
Gene:1301

ENSEMBL
ENSG00000060718

location
chr: 1
start: 103342023
stop: 103574052
strand: -

OMIM
OMIM:120280: COL11A1 (Autosomal recessive inheritance)
OMIM:228520: Fibrochondrogenesis 1
OMIM:154780: Marshall syndrome
OMIM:604841: Stickler syndrome, type II
OMIM:603932: {Lumbar disc herniation, susceptibility to}

transcripts
NM_001190709.1
NM_080629.2
NM_080630.3
NM_001854.3

pathways
Assembly of collagen fibrils and other multimeric structures [NCBI:1270247] [REACTOME:R-HSA-2022090] [PUBMED:8645190] [PUBMED:21182410]
Collagen biosynthesis and modifying enzymes [NCBI:1270246] [REACTOME:R-HSA-1650814] [PUBMED:14698617] [PUBMED:17550969]
Collagen chain trimerization [NCBI:1470926] [REACTOME:R-HSA-8948216] [PUBMED:710450] [PUBMED:171650]
Collagen formation [NCBI:1270245] [REACTOME:R-HSA-1474290] [PUBMED:7574488] [PUBMED:19693541]
Extracellular matrix organization [NCBI:1270244] [REACTOME:R-HSA-1474244] [PUBMED:21123617] [PUBMED:21917992] [PUBMED:12845610]
Protein digestion and absorption [NCBI:172847] [KEGG:hsa04974] [PUBMED:15772300] [PUBMED:18195088] [PUBMED:9687539] [PUBMED:18400692] [PUBMED:12583961] [PUBMED:18626068] [PUBMED:20522896] [PUBMED:14977407] [PUBMED:7937532] [PUBMED:11546643] [PUBMED:20093818] [PUBMED:16887608] [PUBMED:12237156]