KEGG VARIANT: 3694v1

VARIANT: 3694v1

Entry

3694v1                      Variant

Name

ITGB6 mutation

Type

Loss of function

Gene

ITGB6 integrin subunit beta 6 [KO:K06589]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 147558

Network

nt06548 Integrin signaling

Disease

Amelogenesis imperfecta

Reference

Authors

Wang SK, Choi M, Richardson AS, Reid BM, Lin BP, Wang SJ, Kim JW, Simmer JP, Hu JC

Title

ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.

Journal

Hum Mol Genet 23:2157-63 (2014)
DOI:10.1093/hmg/ddt611

LinkDB

DBGET integrated database retrieval system