Metazoan complexes |
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Details of MYO5A gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| MYO5A | MYH12 | Q9Y4I1 | MYO5A_HUMAN | 4644 | ENSG00000197535 | Unconventional myosin-Va | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Griscelli syndrome 1 (GS1) [MIM:214450]: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and mental retardation, without apparent immune abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry. | 214450 | Griscelli syndrome 3 (GS3) [MIM:609227]: Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry. | 609227 | Elejalde syndrome (ELEJAS) [MIM:256710]: Autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I. Note=The disease is caused by mutations affecting the gene represented in this entry. | 256710 |
Phenotypes
Abnormality of dermal melanosomes, Abnormality of hair pigmentation, Abnormality of higher mental function, Abnormality of muscle physiology, Abnormality of skin adnexa, Abnormality of skin morphology, Abnormality of skin pigmentation, Abnormality of the central nervous system, Abnormality of the hair, Abnormality of the integument, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the skin, Abnormal muscle tone, Accumulation of melanosomes in melanocytes, Age of onset, All, Autosomal recessive inheritance, Cognitive impairment, Generalized abnormality of skin, Generalized hypopigmentation of hair, Global developmental delay, Hypopigmentation of hair, Hypopigmentation of the skin, Infantile onset, Intellectual disability, Melanin pigment aggregation in hair shafts, Mode of inheritance, Muscular hypotonia, Onset, Onset and clinical course, Pallor, Phenotypic abnormality, Seizures, Silver-gray hair.
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Myo5a | didum | hum-2 | Sp-MyV |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
MYO5A | MYH11 | 0.272289549 | MYO5A | MYH11 | cpx125; cpx283 | no | yes | yes | Known |
MYO1E | MYO5A | 0.687315052 | MYO1E | MYO5A | cpx125 | no | no | no | Novel |
CAPZA2 | MYO5A | 0.677917726 | CAPZA2 | MYO5A | cpx283 | no | yes | no | Known |