AAH47476.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
GORAB protein
NCBI Official Synonym Full Names
golgin, RAB6-interacting
NCBI Protein Information
RAB6-interacting golgin; SCYL1-BP1; hNTKL-BP1; NTKL-binding protein 1; SCYL1-binding protein 1; SCY1-like 1 binding protein 1; SCY1-like 1-binding protein 1; N-terminal kinase-like-binding protein 1
UniProt Protein Name
RAB6-interacting golgin
UniProt Synonym Protein Names
N-terminal kinase-like-binding protein 1; NTKL-BP1; NTKL-binding protein 1; hNTKL-BP1; SCY1-like 1-binding protein 1
UniProt Synonym Gene Names
NTKLBP1; SCYL1BP1; NTKL-BP1; NTKL-binding protein 1; hNTKL-BP1; SCYL1-BP1 [Similar Products]
UniProt Entry Name
GORAB_HUMAN
NCBI Summary for GORAB
This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
UniProt Comments for GORAB
SCYL1BP1: Defects in GORAB are the cause of geroderma osteodysplasticum (GO); also known as gerodermia osteodysplastica or Walt Disney dwarfism. GO is a rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation. Belongs to the GORAB family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 1q24.2
Cellular Component: nucleoplasm; Golgi apparatus; cytoplasm; nucleolus; nucleus
Molecular Function: protein binding
Disease: Geroderma Osteodysplasticum
Research Articles on GORAB
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Products associated with anti-GORAB antibody
Diseases associated with anti-GORAB antibody
Organs/Tissues associated with anti-GORAB antibody
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