Literature summary for 1.14.14.29 extracted from

Roos, P.; Svenstrup, K.; Danielsen, E.R.; Thomsen, C.; Nielsen, J.E.
CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A (2013), Acta Neurol. Scand., 129, 330-334.

Search for more literature for 1.14.14.29

Protein Variants

Protein Variants	Comment	Organism
A316AA	the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia	Homo sapiens
G147D	the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia	Homo sapiens
R112X	the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia	Homo sapiens
R486C	the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
CYP7B1	-	Homo sapiens
oxysterol 7alpha-hydroxylase	-	Homo sapiens

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Release 2023.1 (January 2023)