NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene. [5] [6]
NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene. [5] [6]
Lafora disease is a rare, adult-onset and autosomal recessive genetic disorder which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells in the heart, liver, muscle, and skin. Lafora disease is also a neurodegenerative disease that causes impairment in the development of brain (cerebral) cortical neurons and is a glycogen metabolism disorder.
Cartilage associated protein is a protein that in humans is encoded by the CRTAP gene.
Cystatin-B is a protein that in humans is encoded by the CSTB gene.
Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.
Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.
Sodium channel subunit beta-1 is a protein that in humans is encoded by the SCN1B gene.
Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.
Rod outer segment membrane protein 1 is a protein that in humans is encoded by the ROM1 gene.
Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.
Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.
Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.
Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.
The renin receptor also known as ATPase H(+)-transporting lysosomal accessory protein 2, or the prorenin receptor, is a protein that in humans is encoded by the ATP6AP2 gene.
Trafficking protein particle complex subunit 10 is a protein that in humans is encoded by the TRAPPC10 gene.
SH3 domain and tetratricopeptide repeats-containing protein 2 is a protein that in humans is encoded by the SH3TC2 gene. It is believed to be expressed in the Schwann cells that wrap the myelin sheath around nerves.
Delta-like 3 (Drosophila), also known as DLL3, is a protein which in humans is encoded by the DLL3 gene. Two transcript variants encoding distinct isoforms have been identified for this gene.
Dymeclin is a protein that in humans is encoded by the DYM gene.
Leucine-rich repeat LGI family member 2 is a protein that in humans is encoded by the LGI2 gene.
Periodic tryptophan protein 2 homolog is a protein that in humans is encoded by the PWP2 gene.
Elongation factor Ts, mitochondrial is a protein that in humans is encoded by the TSFM gene. It is an EF-Ts homolog.
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