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The 3 SRCR Repeats and their disease

S.NOUniprot ID Protein Name Sequence LengthSRCR Repeats regionDisease
1 Q9UGM3 Deleted in malignant brain tumors 1 protein 2413"DISEASE: Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells.
They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.
Note=The gene represented in this entry is involved in disease pathogenesis.
Homozygous deletions may be the predominant mechanism of DMBT1 inactivation playing a role in carcinogenesis.
DMBT1 is deleted in medulloblastoma and glioblastoma cell lines; point mutations have also been reported in patients with glioma.
A loss or reduction of DMBT1 expression has been seen in esophageal, gastric, lung and colorectal carcinomas as well".
2 P58215 Lysyl oxidase homolog 3 753"DISEASE: Note=Defects in LOXL3 are found in a family with an autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence and sensorineural deafness (PubMed:25663169).
Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate) (PubMed:25663169).
The degree of hearing loss varies among affected individuals and may become more severe over time (PubMed:25663169).
Syndrome expressivity is variable (PubMed:25663169).
Ocular disorders include non-progressive myopia with associated chorioretinal degeneration (PubMed:25663169).
Defects in LOXL3 are found in another family with early-onset high myopia (PubMed:26957899).
The disease may be caused by mutations affecting the gene represented in this entry (PubMed:25663169, PubMed:26957899)".
3 P56730 Neurotrypsin 875"DISEASE: Mental retardation, autosomal recessive 1 (MRT1) [MIM:249500]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Non-syndromic mental retardation patients do not manifest other clinical signs.
Note=The disease is caused by mutations affecting the gene represented in this entry".