GENETIC ENCYCLOPEDIA
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gene: CBLN1

id869
symbolCBLN1
organismHomo sapiens
full namecerebellin 1 precursor
summaryThis gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008]
variant-disease

GRCh37/hg19 16q12.1(chr16:48245754-49609203)x3 AND not provided

GRCh37/hg19 16q11.2-12.1(chr16:46737110-51838691)x1 AND See cases

GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1 AND Ductal breast carcinoma

GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1 AND See cases

GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1 AND See cases

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