Gene Function

Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. Plays a role in several other cell functions including proliferation, survival and death. Originally identified for its ability to bind various psychoactive drugs it is involved in learning processes, memory and mood alteration. Necessary for proper mitochondrial axonal transport in motor neurons, in particular the retrograde movement of mitochondria. Plays a role in protecting cells against oxidative stress-induced cell death via its interaction with RNF112 (By similarity) Source: UniProt

Relationship to CMT

dHMN/HMN AR
1 subtype
9p13.3

First described 2015

Subtype	Inheritance	Class	OMIM	Sentinel Publication
SubtypedHMN2-SIGMAR1	Inheritanceautosomal recessive	ClassdHMN/HMN	OMIM605726	Sentinel Publication A SIGMAR1 Splice-Site Mutation Causes Distal Hereditary Motor Neuropathy. 2015 · 10.1212/WNL.0000000000001680

Stored Identifiers

HGNC Aliases: SRBP

hgnc_idHGNC:8157

ensembl_gene_idENSG00000147955

coords_grch38chr9:34631716-34637844

coords_grch37chr9:34634719-34637806

entrez_id10280

omim_gene601978

uniprot_idsQ99720

refseq_accessionNM_005866

mane_refseqNM_005866.4

mane_ensemblENST00000277010.9

External recordsHGNC:8157OMIM 601978gnomADUniProt Q99720ClinVar P/LPOrphanetMANE NM_005866.4GENESIS discovery

EvidencePanelApp Green

ClinVar Variants

Pathogenic and likely pathogenic variants in SIGMAR1, as classified in ClinVar, are read live from NCBI. Only aggregate germline records are shown. Uncertain and conflicting classifications are not. Experts in CMT makes no claim to the accuracy of ClinVar data. This index is provided for informational purposes only.

Review stars are ClinVar’s measure of how well a classification is supported: four for a practice guideline, three for an expert panel review, two for agreement among multiple submitters, one for a single submitter with criteria provided, and none where no criteria were provided.

Reported in CMT

Reported in Other Diseases

Reported in a disease other than CMT. Listed apart rather than counted as CMT variants.

Variants w/o a Recorded Disease

Pathogenic or likely pathogenic in ClinVar, submitted without a disease recorded.

The Dorsal Root

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