protein
Kappa-casein
Gene
CSN3
Organism
Homo sapiens(9606)
Length
182 aa
Mass
20,305 Da
# Kappa-casein Summary
Kappa-casein is a milk protein encoded by the CSN3 gene in humans (UniProt: P07498). It is a 182-amino-acid protein with a molecular weight of approximately 20 kDa. Its primary function is to stabilize casein micelle formation, preventing unwanted precipitation of caseins in milk (UniProt: P07498).
The protein is predominantly expressed in mammary gland tissue where it plays a structural role in milk composition. No specific disease associations are documented in the UniProt record for this protein.
This protein carries SFARI classification tags indicating a syndromic association (SFARI Cat S, syndromic), suggesting potential relevance to autism spectrum disorder within a syndromic context. However, the specific mechanistic or clinical connection requires consultation of additional SFARI database resources for detailed information.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk
Sources
Last updated 5/6/2026, 5:24:53 AM