KEGG VARIANT: 1297v1

VARIANT: 1297v1

Entry

1297v1                      Variant

Name

COL9A1 mutation

Gene

COL9A1 collagen type IX alpha 1 chain [KO:K08131]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 120210

Network

nt06539 Cytoskeleton in muscle cells

Disease

Multiple epiphyseal dysplasia

Stickler syndrome

Reference

Authors

Dennis EP, Greenhalgh-Maychell PL, Briggs MD

Title

Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues.

Journal

Dev Dyn 250:345-359 (2021)
DOI:10.1002/dvdy.221

Reference

Authors

Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S

Title

A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.

Journal

Am J Hum Genet 79:449-57 (2006)
DOI:10.1086/506478

LinkDB

DBGET integrated database retrieval system