CFC1

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CFC1
Identifiers
AliasesCFC1, cripto, FRL-1, cryptic family 1, AV265756, b2b970Clo, cryptic, CFC1B, DTGA2, HTX2
External IDsOMIM: 605194 MGI: 109448 HomoloGene: 50007 GeneCards: CFC1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001270420
NM_001270421
NM_032545

NM_007685

RefSeq (protein)

NP_001257349
NP_001257350
NP_115934

NP_031711

Location (UCSC)Chr 2: 130.59 – 130.6 MbChr 1: 34.54 – 34.54 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cripto, FRL-1, cryptic family 1 is a protein that in humans is encoded by the CFC1 gene. [5]

Function[]

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.

References[]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136698 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026124 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Cripto, FRL-1, cryptic family 1". Retrieved 2017-05-19.

Further reading[]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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