about
P688
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variationDisease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotypeA domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructureThe DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1Usherin expression is highly conserved in mouse and human tissues
P921
description
Protein in Homo sapiens
@de
mammalian protein found in Homo sapiens
@en
protein
@id
proteinë
@sq
proteïne in Usherin
@nl
protèin
@ace
protéine
@fr
بروتين في الإنسان العاقل
@ar
name
Usherin
@en
type
label
Usherin
@en
altLabel
USH2A
@en
Usher syndrome 2A (autosomal recessive, mild)
@en
usher syndrome type IIa protein
@en
usher syndrome type-2A protein
@en
usherin
@en
prefLabel
Usherin
@en
P361
P527
P680
P681
P682
P705
P352
P31
P352
P361
P527
P637
P681
P682
P702
P703
P705
ENSP00000305941
ENSP00000355909
ENSP00000501296