Literature summary for 2.4.2.61 extracted from

Vuillaumier-Barrot, S.; Bouchet-Seraphin, C.; Chelbi, M.; Devisme, L.; Quentin, S.; Gazal, S.; Laquerriere, A.; Fallet-Bianco, C.; Loget, P.; Odent, S.; Carles, D.; Bazin, A.; Aziza, J.; Clemenson, A.; Guimiot, F.; Bonniere, M.; Monnot, S.; Bole-Feysot, C.; Bernard, J.P.; Loeuillet, L.; Gonzales, M.; Socha, K.; Grandchamp, B.; Atti�-Bitach, T.; Encha-Razavi, F.; Seta, N.
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly (2012), Am. J. Hum. Genet., 91, 1135-1143 .

Application

Application	Comment	Organism
medicine	gene defects of TMEM5 are involved in severe cobblestone lissencephaly type A	Homo sapiens

Protein Variants	Comment	Organism
D355V	mutation identified in fetus with severe cobblestone lissencephaly	Homo sapiens
G94E	mutation identified in fetus with severe cobblestone lissencephaly	Homo sapiens
R266G	mutation identified in fetus with severe cobblestone lissencephaly	Homo sapiens
R340L	mutation identified in fetus with severe cobblestone lissencephaly	Homo sapiens
Y339C	mutation identified in fetus with severe cobblestone lissencephaly	Homo sapiens

Localization	Comment	Organism	GeneOntology No.	Textmining
membrane	type II transmembrane protein	Homo sapiens	16020	-

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9Y2B1	-	-

Synonyms	Comment	Organism
TMEM5	-	Homo sapiens

General Information	Comment	Organism
physiological function	TMEM5 mutations are frequently associated with gonadal dysgenesis and neural tube defects	Homo sapiens

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Release 2023.1 (January 2023)