ABHD16A Chromosome 6
Abhydrolase domain containing 16A, phospholipase
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What This Gene Does
A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
Gene Info
Gene Group
"Abhydrolase domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
6p21.33
Ensembl
ENSG00000204427
Associated Conditions (5)
Spastic paraplegia
Spastic paraplegia 86
autosomal recessive
Autosomal recessive complex spastic paraplegia
Complex hereditary spastic paraplegia
Key Variants
RS1452147400
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia 86, autosomal recessive
Health Risk
RS2151220219
Likely pathogenic
Autosomal recessive complex spastic paraplegia, Autosomal recessive complex spastic paraplegia
Health Risk
RS2151231096
Pathogenic
Spastic paraplegia 86, autosomal recessive, Spastic paraplegia 86
Health Risk
RS2151256799
Pathogenic
Spastic paraplegia 86, autosomal recessive, Complex hereditary spastic paraplegia
Health Risk
RS774259910
Pathogenic
Complex hereditary spastic paraplegia, Spastic paraplegia 86, autosomal recessive
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1452147400 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia 86, autosomal recessive |
| RS2151220219 | Health Risk | Likely pathogenic | Autosomal recessive complex spastic paraplegia, Autosomal recessive complex spastic paraplegia |
| RS2151231096 | Health Risk | Pathogenic | Spastic paraplegia 86, autosomal recessive, Spastic paraplegia 86 |
| RS2151256799 | Health Risk | Pathogenic | Spastic paraplegia 86, autosomal recessive, Complex hereditary spastic paraplegia |
| RS774259910 | Health Risk | Pathogenic | Complex hereditary spastic paraplegia, Spastic paraplegia 86, autosomal recessive |