BBS12 Gene

Alternative Names

BBS12
FLJ35630
C4ORF24

Length

44,507 bases

No. of Exons

No. of isoforms

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 Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001178007.1:c.265_266del	Lebanon	chr4:122742157-122742158	Pathogenic	Pathogenic	Bardet-Biedl Syndrome 12	NG_021203.1:g.14456_14457del; NM_001178007.1:c.265_266del; NP_001171478.1:p.Leu89fs	1397714772	554330
NM_152618.3:c.1993GTT[1]	United Arab Emirates	NC_000004.12:g.122743885GTT[1]		Likely Pathogenic	Bardet-Biedl Syndrome 12	NG_021203.1:g.16184GTT[1]; NM_152618.3:c.1993GTT[1]; NP_689831.2:p.Val666del	779685329
NM_152618.3:c.2041_2049del	Saudi Arabia	NC_000004.12:g.122743933_122743941del		Likely Pathogenic	Bardet-Biedl Syndrome 12	NM_152618.3:c.2041_2049del; NP_689831.2:p.Leu682_Leu684del
NM_152618.3:c.787dup	Saudi Arabia	NC_000004.12:g.122742679dup	Pathogenic	Likely Pathogenic	Bardet-Biedl Syndrome 12	NG_021203.1:g.14978dup; NM_152618.3:c.787dup; NP_689831.2:p.Tyr263LeufsTer4	1553941312	434491
NM_152618.3:c.880T>G	Lebanon	chr4:122742772		Pathogenic	Bardet-Biedl Syndrome 12	NG_021203.1:g.15071T>G; NM_152618.2:c.880T>G; NP_689831.2:p.Tyr294Asp
NM_152618.3:c.959T>A	United Arab Emirates	NC_000004.12:g.122742851T>A		Likely Pathogenic	Bardet-Biedl Syndrome 12	NG_021203.1:g.15150T>A; NM_152618.3:c.959T>A; NP_689831.2:p.Leu320Gln

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=BBS12

Contributors

Sayeeda Hana: 15.10.2020

Edit History

Sayeeda Hana: 20.07.2022
Sayeeda Hana: 15.10.2020

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