Precerebellin 1

Alternative Names

  • CBLN1
  • Precerebellin
  • Cerebellin Precursor
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OMIM Number

600432

NCBI Gene ID

869

Uniprot ID

P23435

Length

3,922 bases

No. of Exons

3

No. of isoforms

1

Protein Name

Cerebellin-1

Molecular Mass

21097 Da

Amino Acid Count

193

Genomic Location

chr16:49,277,916-49,281,837

Gene Map Locus
16q12.1

Description

This 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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000016.10:g.49028679=United Arab EmiratesNC_000016.10:g.49028679=Type 2 Diabetes Mellitus; Obesity2080454
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