Recombinant Human WD repeat-containing protein 35 (WDR35), Truncated

Uniprot Id

Q9P2L0

Target Species

Human

Target Name

WDR35

Target Full Name

WD repeat-containing protein 35

Target Function

As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary protein trafficking. May promote CASP3 activation and TNF-stimulated apoptosis.

Target Involvement

Cranioectodermal dysplasia 2 (CED2); Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7)

Target Subcellular Location

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body.

Target Synonyms

Intraflagellar transport protein 121 homolog; KIAA1336; MGC33196; Naofen; WD repeat domain 35; WD repeat-containing protein 35; WDR35; WDR35_HUMAN

Target Background

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.