PECR
Homo sapiens
Gene Name: peroxisomal trans-2-enoyl-CoA reductase
Aliases: PRO1004, DCRRP, HPDHASE, HSA250303, PVIARL, SDR29C1, TERP
Chromosome No: 2
Chromosome Band: 2q35
Genetic Category: Rare Single Gene variant
Aliases: PRO1004, DCRRP, HPDHASE, HSA250303, PVIARL, SDR29C1, TERP
Chromosome No: 2
Chromosome Band: 2q35
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 5
Evidence score: 0
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 5
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
A rare mutation in the PECR gene has been identified with ASD (Najmabadi et al., 2011).
Molecular Function
This enzyme participates in chain elongation of fatty acids and has no 2,4-dienoyl-CoA reductase activity.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN276R001a
missense_variant
G>C
p.Leu57Val
Familial
Both parents
Multiplex
GEN276R002
synonymous_variant
c.750A>G
p.Ala250=
De novo
Unknown
GEN276R003
missense_variant
c.496C>T
p.Pro166Ser
De novo
Unknown
Common
No Common Variants Available