Bassoon Presynaptic Cytomatrix Protein

Alternative Names

  • BSN
  • Bassoon, Mouse, Homolog of
  • Zinc Finger Protein 231
  • ZNF231
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OMIM Number

604020

NCBI Gene ID

8927

Uniprot ID

Q9UPA5

Length

118,654 bases

No. of Exons

14

No. of isoforms

1

Protein Name

Protein bassoon

Molecular Mass

416469 Da

Amino Acid Count

3926

Genomic Location

chr3:49,554,477-49,673,130

Gene Map Locus
3p21.31

Description

Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003458.4:c.10988G>TJordanNC_000003.12:g.49663146G>TUncertain SignificanceIntellectual Deficiency, Autosomal Recessive, UnclassifiedNG_015892.1:g.113658G>T; NM_003458.4:c.10988G>T; NP_003449.2:p.Gly3663Val185272948
NM_003458.4:c.11489G>AJordanNC_000003.12:g.49663647G>AUncertain SignificanceIntellectual Deficiency, Autosomal Recessive, UnclassifiedNG_015892.1:g.114159G>A; NM_003458.4:c.11489G>A; NP_003449.2:p.Gly3830Asp181483922
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