VPS37A Chromosome 8
VPS37A subunit of ESCRT-I
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What This Gene Does
This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
Gene Info
Gene Group
ESCRT-I
Locus Type
gene with protein product
Location
8p22
Ensembl
ENSG00000155975
Associated Conditions (5)
Idiopathic transverse myelitis
Hereditary spastic paraplegia 53
Hereditary spastic paraplegia
Colon adenocarcinoma
Malignant tumor of urinary bladder
Key Variants
RS150912414
Conflicting classifications of pathogenicity
Idiopathic transverse myelitis, Hereditary spastic paraplegia 53, Idiopathic transverse myelitis
Health Risk
RS373895020
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 53, Hereditary spastic paraplegia 53
Health Risk
RS531893337
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 53, Hereditary spastic paraplegia, Hereditary spastic paraplegia 53
Health Risk
RS755402438
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 53, Colon adenocarcinoma, Malignant tumor of urinary bladder
Health Risk
RS211694394
Pathogenic
Hereditary spastic paraplegia 53, Hereditary spastic paraplegia 53
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150912414 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic transverse myelitis, Hereditary spastic paraplegia 53, Idiopathic transverse myelitis |
| RS373895020 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 53, Hereditary spastic paraplegia 53 |
| RS531893337 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 53, Hereditary spastic paraplegia, Hereditary spastic paraplegia 53 |
| RS755402438 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 53, Colon adenocarcinoma, Malignant tumor of urinary bladder |
| RS211694394 | Health Risk | Pathogenic | Hereditary spastic paraplegia 53, Hereditary spastic paraplegia 53 |