Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 4.1.1.90 extracted from

  • Titapiwatanakun, R.; Rodriguez, V.; Middha, S.; Dukek, B.A.; Pruthi, R.K.
    Novel splice site mutations in the gamma glutamyl carboxylase gene in a child with congenital combined deficiency of the vitamin K-dependent coagulation factors (VKCFD) (2009), Pediatr. Blood Cancer, 53, 92-95.
    View publication on PubMed

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
additional information 6-year-old Mexican American male Homo sapiens
-

Synonyms

Synonyms Comment Organism
gamma-glutamyl carboxylase
-
Homo sapiens
GGCX
-
Homo sapiens

General Information

General Information Comment Organism
physiological function two novel splice site mutations in the GGCX gene, G to T transversion of the first nucleotide of intron 2 (c. 1358+1G-T) and an A to G transversion of the third nucleotide of intron 11 (c. 10363+3A-G) Homo sapiens