CLPB

Caseinolytic peptidase B protein homolog (CLPB), also known as Skd3, is a mitochondrial AAA ATPase chaperone that in humans is encoded by the

The CLPB gene has 19 exons and is located at the chromosome band 11q13.4.^[7]

Protein

Skd3 has five isoforms due to alternative splicing. Isoform 1 is considered to have the 'canonical' sequence. The protein is 78.7 kDa in size and composed of 707 amino acids. It contains an N-terminal mitochondrial targeting sequence (1-92 amino acids).

Neonatal encephalopathy is a kind of severe neurological impairment in the newborn with no specific clinical sign at the early stage of life, and its diagnosis remains a challenge. This neonatal encephalopathy includes a heterogeneous group of 3-methylglutaconic aciduria syndromes and loss of Skd3 function is reported to be one of the causes. Knocking down the clpB gene in the zebrafish induced reduction of growth and increment of motor activity, which is similar to the signs observed in patients.^[20] Its loss may lead to a broad phenotypic spectrum encompassing intellectual disability/developmental delay, congenital neutropenia, progressive brain atrophy, movement disorder, and bilateral cataracts, with 3-methylglutaconic aciduria.^[8][11][28] Further investigation into Skd3 may shed a new light on the diagnosis of this disease.

Interactions

This protein is known to interact with:

• HAX1^[8][10][24]
• PARL^[10][14]
• HTRA2^[10]
• SMAC/DIABLO^[10]
• OPA1^[10]
• OPA3^[24]
• PHB2^[10][29]
• MICU1^[10]
• MICU2^[10]
• SLC25A25^[10]
• SLC25A13^[10]
• TIMM8A^[10]
• TIMM8B^[10]
• TIMM13^[10]
• TIMM21^[10]
• TIMM22^[10]
• TIMM23^[10]
• TIMM50^[10]
• NDUFA8^[10]
• NDUFA11^[10]
• NDUFA13^[10]
• NDUFB7^[10]
• NDUFB10^[10]
• TTC19^[10]
• COX11^[10]
• CYC1^[10]

References