KEGG VARIANT: 24137v1

VARIANT: 24137v1

Entry

24137v1                      Variant

Name

KIF4A mutation

Gene

KIF4A kinesin family member 4A [KO:K10395]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 300521

Network

nt06512 Chromosome cohesion and segregation

Disease

X-linked intellectual developmental disorder

Reference

Authors

Willemsen MH, Ba W, Wissink-Lindhout WM, de Brouwer AP, Haas SA, Bienek M, Hu H, Vissers LE, van Bokhoven H, Kalscheuer V, Nadif Kasri N, Kleefstra T

Title

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

Journal

J Med Genet 51:487-94 (2014)
DOI:10.1136/jmedgenet-2013-102182

LinkDB

DBGET integrated database retrieval system