collagen and calcium binding EGF domains 1

Summary
Gene Symbol
  • CCBE1
Organism
Homo sapiens (human)
NCBI Gene
147372
PubChem
147372
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Angiogenesis
  • Calcium
  • Collagen
  • Developmental protein
  • Disease variant
  • Disulfide bond
  • EGF-like domain
  • Intellectual disability
  • Proteoglycan
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Secreted
  • Signal
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A8Q3WKU1
Q6UXH8
  • Full of fluid protein homolog
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Collagen and calcium-binding EGF domain-containing protein 1
Functional Category
  • G: Carbohydrate transport and metabolism
  • I: Lipid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0060366 Hennekam syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024