about
P688
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyriaUner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stabilityAn inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy
P921
description
humanes Protein
@de
mammalian protein found in Homo sapiens
@en
menselijk eiwit
@nl
protein
@id
protein
@sv
proteinë
@sq
protèin
@ace
protéine humaine
@fr
بروتين بشري
@ar
name
Tubulin beta 2B class IIb
@en
Tubulin beta 2B class IIb
@nl
type
label
Tubulin beta 2B class IIb
@en
Tubulin beta 2B class IIb
@nl
altLabel
TUBB2B
@en
class II beta-tubulin isotype
@en
class IIb beta-tubulin
@en
epididymis secretory sperm binding protein
@en
tubulin beta-2B chain
@en
tubulin, beta 2B
@en
tubulin, beta polypeptide paralog
@en
prefLabel
Tubulin beta 2B class IIb
@en
Tubulin beta 2B class IIb
@nl
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ENSP00000259818