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Gene : CFC1 Homo sapiens

Name  ? cripto, FRL-1, cryptic family 1 Cytological Location  2q21.1
Brief Description  cripto, FRL-1, cryptic family 1
Description  This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
  • synonyms:
  • heterotaxy 2 (autosomal dominant),
  • DTGA2,
  • OTTHUMG00000131628,
  • CRYPTIC,
  • HTX2,
  • HTX2,
  • CRYPTIC,
  • CFC1,
  • HGNC:18292,
  • uc002tro.3,
  • NM_032545,
  • AF312769,
  • CFC1B
  • identifiers:
  • 55997,
  • ENSG00000136698,
  • CFC1

Genome feature

Region: gene ? Length: 7411  
Location: 2:130592165-130599575 reverse strand Cyto location: 2q21.1


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Disease

1 Diseases

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196 SNPs

5 Cross References

15 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results