POC1A Antibody – Rabbit Polyclonal

POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]

Function: Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Required for ciliogenesis. Ref.7

Subcellular location: Cytoplasm › cytoskeleton › microtubule organizing center › centrosome › centriole. Cytoplasm › cytoskeleton › cilium basal body. Note: Component of both mother and daughter centrioles. Ref.5 Ref.6 Ref.7

Involvement in disease: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) [MIM:614813]: A syndrome characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed.Note: The disease is caused by mutations affecting the gene represented in this entry. Cells derived from affected individuals have abnormal mitotic mechanics with multipolar spindles, in addition to clearly impaired ciliogenesis. Ref.8 Ref.9

Sequence similarities: Belongs to the WD repeat POC1 family.Contains 7 WD repeats.

Sequence caution: The sequence AAI19694.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.The sequence CAB56021.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.