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.[provided by RefSeq, Sep 2010]
Function:
May promote CASP3 activation and TNF-stimulated apoptosis.
DISEASE:
Defects in WDR35 are the cause of cranioectodermal dysplasia type 2 (CED2) [MIM:613610]. A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include short stature, dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, short limbs, brachydactyly, joint laxity, narrow palpebral fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip, and short neck. Teeth abnormalities included widely spaced, hypoplastic and fused teeth.
Similarity:
Contains 5 WD repeats.
SWISS:
Q9P2L0
Gene ID:
57539
Database links:
Entrez Gene: 57539 Human
Entrez Gene: 74682 Mouse
Entrez Gene: 298876 Rat
Entrez Gene: 503018 Rat
Omim: 61722 Human
SwissProt: Q9P2L0 Human
SwissProt: Q8BND3 Mouse
SwissProt: A6N6J5 Rat
Unigene: 205427 Human
Unigene: 87389 Mouse
Unigene: 104271 Rat
Unigene: 14574 Rat
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