NSMF Chromosome 9
NMDA receptor synaptonuclear signaling and neuronal migration factor
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What This Gene Does
The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000165802
Associated Conditions (3)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Pituitary stalk interruption syndrome
Hypogonadotropic hypogonadism 9 with or without anosmia
Key Variants
RS138291208
Conflicting classifications of pathogenicity
Health Risk
RS142726563
Conflicting classifications of pathogenicity
Health Risk
RS923607827
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS1831038541
Pathogenic
Pituitary stalk interruption syndrome, Pituitary stalk interruption syndrome
Health Risk
RS121918340
risk factor
Hypogonadotropic hypogonadism 9 with or without anosmia, Hypogonadotropic hypogonadism 9 with or without anosmia
Health Risk
RS606231136
risk factor
Hypogonadotropic hypogonadism 9 with or without anosmia, Hypogonadotropic hypogonadism 9 with or without anosmia
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138291208 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142726563 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS923607827 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS1831038541 | Health Risk | Pathogenic | Pituitary stalk interruption syndrome, Pituitary stalk interruption syndrome |
| RS121918340 | Health Risk | risk factor | Hypogonadotropic hypogonadism 9 with or without anosmia, Hypogonadotropic hypogonadism 9 with or without anosmia |
| RS606231136 | Health Risk | risk factor | Hypogonadotropic hypogonadism 9 with or without anosmia, Hypogonadotropic hypogonadism 9 with or without anosmia |