Literature summary for 6.3.4.10 extracted from

Tammachote, R.; Janklat, S.; Tongkobpetch, S.; Suphapeetiporn, K.; Shotelersuk, V.
Holocarboxylase synthetase deficiency: novel clinical and molecular findings (2009), Clin. Genet., 78, 88-93.

Search for more literature for 6.3.4.10

Cloned(Commentary)

Cloned (Comment)	Organism
HLCS is encoded by an 11-exon gene, HLCS, located on chromosome 21q22.1, genotyping	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	identification of naturally occuring mutations leading to multiple carboxylase deficiency, MCD, an autosomal recessive metabolic disorder caused by HLCS deficiency, overview	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
HLCS	-	Homo sapiens
Holocarboxylase synthetase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	defective activity of holocarboxylase synthetase in the biotin cycle causes multiple carboxylase deficiency, MCD, an autosomal recessive metabolic disorder usually in the neonatal or early-onset form	Homo sapiens

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Release 2023.1 (January 2023)