C1QTNF5 C1q and TNF related 5

Gene ID: 114902, updated on 19-Sep-2024
Gene type: protein coding
Also known as: MFRP; CTRP5

Summary

This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Late-onset retinal degeneration MedGen: C1854065OMIM: 605670GeneReviews: Not available	not available

Genomic context

Location:: 11q23.3

Sequence:: Chromosome: 11; NC_000011.10 (119338942..119346705, complement)

Total number of exons:: 15

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for C1QTNF5 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

C1QTNF5 database
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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