CFAP57

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Description

Cilia and flagella associated protein 57

Tissue specificity

Group enriched (choroid plexus, fallopian tube, testis)

Subcell location

Cytosol

Predicted location

Intracellular, Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)

Chromosome

1 (43172330 - 43254358)

Ensembl ID

ENSG00000243710  (ver. 103.38)

Orthologs

Mouse Cfap57: ENSMUSG00000028730

UniProt

Q96MR6

neXtProt

NX_Q96MR6

Human splice variants
Mouse splice variants

Protein structure