background:
ILDR1 is a putative membrane receptor. It belongs to the immunoglobulin superfamily, LISCH7 family. It is mainly expressed in prostate and to a lower extent in testis, pancreas, kidney, heart and liver.
Function:
Putative membrane receptor.
Subunit:
Homooligomer.
Subcellular Location:
Cell membrane; Single pass type I membrane protein. Isoform 5: Cytoplasm (cytosol).
Tissue Specificity:
Mainly expressed in prostate and to a lower extent in testis, pancreas, kidney, heart and liver.
DISEASE:
Defects in ILDR1 are the cause of deafness autosomal recessive type 42 (DFNB42) [MIM:609646]; also called non-syndromic sensorineural deafness autosomal recessive type 42. DFNB42 is a prelingual, non-progressive form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Similarity:
Belongs to the immunoglobulin superfamily. LISCH7 family.
Contains 1 Ig-like SLVtype (immunoglobulin-like) domain.
Database links:
Entrez Gene: 286676 Human
Entrez Gene: 106347 Mouse
Omim: 609739 Human
SwissProt: Q86SU0 Human
SwissProt: Q8CBR1 Mouse
Unigene: 98484 Human
Unigene: 3567 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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