CATSPER1 cation channel sperm associated 1

Gene ID: 117144, updated on 22-Apr-2024
Gene type: protein coding
Also known as: SPGF7; CATSPER

Summary

Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. GeneReviews: Not available
Spermatogenic failure 7 MedGen: C2751811OMIM: 612997GeneReviews: Not available	See labs

Genomic context

Location:: 11q13.1

Sequence:: Chromosome: 11; NC_000011.10 (66016752..66026479, complement)

Total number of exons:: 12

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 CATSPER1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

CATSPER1 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

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.