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Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1B to ensure centriole integrity and proper mitotic spindle formation.
Gene References into Functions
we report the first patient with SOFT syndrome harboring compound heterozygous variants of POC1A. understanding POC1A mutations may provide appropriate management and genetic counseling to these patients and their families. PMID: 26791357
Result identified a novel mutation in POC1A of patients with primordial dwarfism and showed that this mutation causes the formation of multiple numbers of centrioles and multipolar spindles with abnormal chromosome arrangement. PMID: 26162852
POC1A may be added to ALMS1 and PCNT as examples of centrosomal or pericentriolar proteins whose dysfunction leads to extreme dyslipidaemic insulin resistance. PMID: 26336158
Poc1A and Poc1B play redundant, but essential, roles in generation of stable centrioles, but Poc1B may have additional independent functions during cell cycle progression. PMID: 23015594
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. PMID: 22840363
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. PMID: 22840364
Based on these data, we propose that Pix1 and Pix2 are microtubule-associated adaptor proteins that likely contribute to a range of developmental and cell division processes. PMID: 18068700
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Involvement in disease
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT)
Subcellular Location
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle pole. Note=Component of both mother and daughter centrioles.