BBS12 Gene

Alternative Names

  • BBS12
  • FLJ35630
  • C4ORF24

Associated Diseases

Bardet-Biedl Syndrome 12
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OMIM Number

610683

NCBI Gene ID

166379

Uniprot ID

Q6ZW61

Length

44,507 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Bardet-Biedl syndrome 12 protein

Molecular Mass

79085 Da

Amino Acid Count

710

Genomic Location

chr4:122,700,436-122,744,942

Gene Map Locus
4q27

Description

The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001178007.1:c.265_266delLebanonchr4:122742157-122742158PathogenicPathogenicBardet-Biedl Syndrome 12NG_021203.1:g.14456_14457del; NM_001178007.1:c.265_266del; NP_001171478.1:p.Leu89fs1397714772554330
NM_152618.3:c.1993GTT[1]United Arab EmiratesNC_000004.12:g.122743885GTT[1]Likely PathogenicBardet-Biedl Syndrome 12NG_021203.1:g.16184GTT[1]; NM_152618.3:c.1993GTT[1]; NP_689831.2:p.Val666del779685329
NM_152618.3:c.2041_2049delSaudi ArabiaNC_000004.12:g.122743933_122743941delLikely PathogenicBardet-Biedl Syndrome 12NM_152618.3:c.2041_2049del; NP_689831.2:p.Leu682_Leu684del
NM_152618.3:c.787dupSaudi ArabiaNC_000004.12:g.122742679dupPathogenicLikely PathogenicBardet-Biedl Syndrome 12NG_021203.1:g.14978dup; NM_152618.3:c.787dup; NP_689831.2:p.Tyr263LeufsTer41553941312434491
NM_152618.3:c.880T>GLebanonchr4:122742772PathogenicBardet-Biedl Syndrome 12NG_021203.1:g.15071T>G; NM_152618.2:c.880T>G; NP_689831.2:p.Tyr294Asp
NM_152618.3:c.959T>AUnited Arab EmiratesNC_000004.12:g.122742851T>ALikely PathogenicBardet-Biedl Syndrome 12NG_021203.1:g.15150T>A; NM_152618.3:c.959T>A; NP_689831.2:p.Leu320Gln
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