Literature summary for 3.4.24.84 extracted from

Ahmad, Z.; Phadke, S.R.; Arch, E.; Glass, J.; Agarwal, A.K.; Garg, A.
Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity (2012), Clin. Genet., 81, 158-164.

Search for more literature for 3.4.24.84

Protein Variants

Protein Variants	Comment	Organism
L362F	the mutation is associated with restrictive dermopathy	Homo sapiens
additional information	neonates with restrictive dermopathy have homozygous or compound heterozygous null mutations in the ZMPSTE24 gene	Homo sapiens
W302X	the mutation is associated with restrictive dermopathy	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	O75844	-	-

Synonyms

Synonyms	Comment	Organism
Zmpste24	-	Homo sapiens

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Release 2023.1 (January 2023)