TRPM1
Homo sapiens
Gene Name: transient receptor potential cation channel subfamily M member 1
Aliases: CSNB1C, LTRPC1, MLSN1
Chromosome No: 15
Chromosome Band: 15q13.3
Genetic Category: Rare single gene variant
Aliases: CSNB1C, LTRPC1, MLSN1
Chromosome No: 15
Chromosome Band: 15q13.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 14
Associated CNVs: 11
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 14
Associated CNVs: 11
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
An enrichment of deletions of the TRPM1 gene were observed in ASD cases (5/2,588) compared to controls (0/2,670; Fisher's exact test p=0.029) (Girirajan et al., 2013).
Molecular Function
This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
A survey of rare coding variants in candidate genes in schizophrenia by deep sequencing.
SCZ
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN513R011
frameshift_variant
c.4224_4227del
p.Asp1409LeufsTer11
Familial
Paternal
Multiplex
GEN513R013
frameshift_variant
c.1274_1275del
p.Ile425SerfsTer62
Familial
Paternal
Multiplex
Common
No Common Variants Available
