C1QL1 complement C1q like 1

Gene ID: 10882, updated on 28-Oct-2024
Gene type: protein coding
Also known as: CRF; C1QRF; CTRP14; C1QTNF14

Summary

Predicted to enable signaling receptor binding activity. Predicted to be involved in regulation of synapse pruning. Predicted to act upstream of or within maintenance of synapse structure; motor learning; and neuron remodeling. Predicted to be located in several cellular components, including climbing fiber; extracellular region; and presynapse. Predicted to be part of collagen trimer. Predicted to be active in cerebellar climbing fiber to Purkinje cell synapse and synaptic cleft. [provided by Alliance of Genome Resources, Oct 2024]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. GeneReviews: Not available

Genomic context

Location:: 17q21.31

Sequence:: Chromosome: 17; NC_000017.11 (44959693..44968303, complement)

Total number of exons:: 2

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 C1QL1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
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
Variation Viewer
Related Variants

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