RAB6-interacting golgin isoform b [Homo sapiens]

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Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica. [Eur J Med Genet. 2017]
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.
Takeda R, Takagi M, Shinohara H, Futagawa H, Narumi S, Hasegawa T, Nishimura G, Yoshihashi H. Eur J Med Genet. 2017 Dec; 60(12):635-638. Epub 2017 Aug 12.
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa. [J Hum Genet. 2017]
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.
Al-Bughaili M, Neuhann TM, Flöttmann R, Mundlos S, Spielmann M, Kornak U, Fischer-Zirnsak B. J Hum Genet. 2017 Feb; 62(2):325-328. Epub 2016 Sep 8.
Transcriptional profiling and dynamical regulation analysis identify potential kernel target genes of SCYL1-BP1 in HEK293T cells. [Mol Cells. 2014]
Transcriptional profiling and dynamical regulation analysis identify potential kernel target genes of SCYL1-BP1 in HEK293T cells.
Wang Y, Chen X, Chen X, Chen Q, Huo K. Mol Cells. 2014 Sep; 37(9):691-8. Epub 2014 Sep 18.

RefSeq genomic sequence
See the genomic reference sequence for the GORAB gene (NG_012237.2).
RefSeq mRNA
See reference mRNA sequence for the GORAB gene (NM_001146039.2).

Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource

RAB6-interacting golgin isoform b [Homo sapiens]
RAB6-interacting golgin isoform b [Homo sapiens]
gi|1756613215|ref|NP_001139511.2|

Protein

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Protein