CBS Gene

Alternative Names

  • Cystathionine Beta-Synthase
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OMIM Number

613381

NCBI Gene ID

875

Uniprot ID

P35520

Length

23,753 bases

No. of Exons

24

No. of isoforms

2

Protein Name

Cystathionine beta-synthase

Molecular Mass

60587Da

Amino Acid Count

551

Genomic Location

chr21:43,053,191-43,076,943

Gene Map Locus
21q22.3

Description

Cystathionine beta-synthase encoded by CBS gene is an important component of transsulfuration pathway that coverts homocysteine to cystathionine. Deficiency of cystathionine beta-synthase due to mutation in the CBS gene causes homocystinuria.

Molecular Genetics

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000071.3:c.1006C>TQatar; Saudi ArabiaNC_000021.9:g.43062344G>APathogenicLikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyNG_008938.1:g.18587C>T; NM_000071.3:c.1006C>T; NP_000062.1:p.Arg336Cys39812315192423
NM_000071.3:c.1039G>ABahrain; QatarNC_000021.9:g.43062311C>TLikely Pathogenic, PathogenicLikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyNG_008938.1:g.18620G>A; NM_000071.3:c.1039G>A; NP_000062.1:p.Gly347Ser771298943188801
NM_000071.3:c.457G>ASaudi ArabiaNC_000021.9:g.43065690C>TLikely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyNG_008938.1:g.15241G>A; NM_000071.3:c.457G>A; NP_000062.1:p.Gly153Arg745704046212846
NM_000071.3:c.700G>AQatarNC_000021.9:g.43065239C>TLikely Pathogenic, PathogenicLikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyNG_008938.1:g.15692G>A; NM_000071.3:c.700G>A; NP_000062.1:p.Asp234Asn773734233212852
NM_000071.3:c.770C>TSudanNC_000021.9:g.43063958G>ALikely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyNG_008938.1:g.16973C>T; NM_000071.3:c.770C>T; NP_000062.1:p.Thr257Met758236584188927
NM_000071.3:c.969G>ASaudi ArabiaNC_000021.9:g.43062381C>TPathogenicLikely PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyNG_008938.1:g.18550G>A; NM_000071.3:c.969G>A; NP_000062.1:p.Trp323Ter863223432212856
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