1. Gene
  2. Cftr - cystic fibrosis transmembrane conductance regulator Gene

Cftr - cystic fibrosis transmembrane conductance regulator Gene

Mus musculus

Also known as Abcc7

Gene ID: 12638 | Gene type: protein coding

About Cftr

Chromosome 6: 18,170,686-18,322,767 forward strand.GRCm39:CM000999.3

This gene has 6 transcripts (splice variants), 215 orthologues, 10 paralogues and is associated with 116 phenotypes. Biased expression in large intestine adult (RPKM 4.3), testis adult (RPKM 3.6) and 9 other tissues.

Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This gene encodes the cystic fibrosis transmembrane regulator and a Chloride Channel that controls the regulation of other transport pathways. Mutations in this gene have been associated with autosomal recessive disorders such as cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternative splicing of exons 4, 5, and 11 have been observed, but full-length transcripts have not yet been fully described. [provided by RefSeq, Jul 2008]

Cftr Products(1)

mRNA Protein Name
NM_021050.2 NP_066388.1 cystic fibrosis transmembrane conductance regulator

Cftr Protein Structure

CFTR_protein

CFTR_protein: cl36858 (0 - 1463)

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  • 1476 a.a.
Protein Preferred Names Protein Names

cystic fibrosis transmembrane conductance regulator

ATP-binding cassette sub-family C member 7

ATP-binding cassette transporter sub-family C member 7

ATP-binding cassette, subfamily c, member 7

cAMP-dependent chloride channel

channel conductance-controlling ATPase

cystic fibrosis transmembrane conductance regulator homolog

cystic fibrosis transmembrane conductance regulator homolog

ATP-binding cassette, subfamily c, member 7

Orthologs Information

Species Symbol Source ID
Homo sapiens Cftr NCBI NCBI:1080