Gamma-Glutamyl Carboxylase

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OMIM Number

137167

NCBI Gene ID

2677

Uniprot ID

P38435

Length

16,825 bases

No. of Exons

15

No. of isoforms

2

Protein Name

Vitamin K-dependent gamma-carboxylase

Molecular Mass

87561 Da

Amino Acid Count

758

Genomic Location

chr2:85,544,723-85,561,547

Gene Map Locus
2p11.2

Description

The gamma-glutamyl carboxylase  is an ER-localized enzyme that catalyzes the post translational modification of glutamate residue to gamma-carboxy glutamate residues. These modified residues form calcium binfiding groups of proteins. Vitamin K functions as a cofactor of this enzyme. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000821.6:c.1502G>CLebanonNC_000002.12:g.85551919C>GPathogenicPathogenicVitamin K-Dependent Clotting Factors, Combined Deficiency of, 1NG_011811.2:g.14616G>C ; NM_000821.6:c.1502G>C; NP_000812.2:p.Trp501Ser2892887216195
NM_000821.7:c.548A>TUnited Arab EmiratesNC_000002.12:g.85556252T>ALikely PathogenicVitamin K-Dependent Clotting Factors, Combined Deficiency of, 1NG_011811.2:g.10283A>T; NM_000821.7:c.548A>T; NP_000812.2:p.Asp183Val
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