STRC - stereocilin Gene
Also Known as DFNB16
Species: Homo sapiens
About STRC
This gene has 13 transcripts (splice variants), 190 orthologues, 3 paralogues and is associated with 5 phenotypes. Broad expression in skin (RPKM 1.3), colon (RPKM 1.3) and 19 other tissues.
Summary
This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]
STRC Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_153700.2 | NP_714544.1 | stereocilin precursor |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
stereocilin |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness, Autosomal Recessive 16 |
|
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| Deafness-Infertility Syndrome |
|
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| Deafness, Autosomal Dominant 16 |
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| Spermatogenic Failure 7 |
|
|
| Rare Genetic Deafness |
|
|
| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
|
|
| Catsper-Related Male Infertility |
|
|
| Deafness, Autosomal Recessive 84b |
|
|
| Y-Linked Deafness |
|
|
| Sensorineural Hearing Loss |
|
|
| Deafness, Autosomal Recessive 18b |
|
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| Basilicata-Akhtar Syndrome |
|
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| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
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| Streptococcal Meningitis |
|
|
| Deafness, Autosomal Recessive 99 |
|
|
| Charcot-Marie-Tooth Disease Type 5 |
|
|
| Infertility |
|
|
| Deafness, Autosomal Recessive 1a |
|
|
| Deafness, Autosomal Recessive 1b |
|
|
| Deafness, Autosomal Recessive 66 |
|
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| Auditory System Disease |
|
|
| Deafness, Autosomal Recessive 15 |
|
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| Deafness, Autosomal Recessive 39 |
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| Usher Syndrome, Type Iia |
|
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| Deafness, X-Linked 2 |
|
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| Deafness, Autosomal Recessive 12 |
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| Deafness, Autosomal Recessive 23 |
|
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| Vestibular Disease |
|
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| Usher Syndrome Type 2 |
|
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| Waardenburg Syndrome, Type 1 |
|
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| X-Linked Nonsyndromic Deafness |
|
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| Autosomal Recessive Nonsyndromic Deafness |
|
|
| Branchiootorenal Syndrome |
|
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| Inner Ear Disease |
|
|
| Usher Syndrome, Type Id |
|
|
| Usher Syndrome, Type I |
|
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| Usher Syndrome |
|
|
| Pendred Syndrome |
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
|
| Stickler Syndrome |
|
|
| Noonan Syndrome 1 |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | STRC | RGD | RGD:1593345 |
| Bos taurus | STRC | VGNC | VGNC:55895 |
| Mus musculus | STRC | MGD | MGI:2153816 |
| Canis familiaris | STRC | VGNC | VGNC:59131 |
| Felis catus | STRC | VGNC | VGNC:80831 |
| Others | STRC | NCBI |