Gene: RSPO4

Alternate names for this Gene: C20orf182|CRISTIN4

Gene Summary: This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 20

Location in Chromosome : 20p13

Description of this Gene: R-spondin 4

Type of Gene: protein-coding

rs62187521 in RSPO4 gene and Alzheimer's Disease PMID 29274321 2018 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages.

rs62187521 in RSPO4 gene and Memory performance PMID 29274321 2018 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages.

rs74315420 in RSPO4 gene and NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 PMID 17041604 2006 The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.