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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
| Q07902
| Q16249 | ENSG00000197535 |
Phenotypes
Abnormal muscle tone, 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, 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 |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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